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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ASTN2	23245	broad.mit.edu	37	9	119976641	119976641	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:119976641C>T	uc004bjt.2	-	2	1112	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	337						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTCACCTTTCTTCTCAAAGT	0.557000														58			73		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36259245	36259245	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:36259245G>A	uc010jwf.2	+	1	354	c.354G>A	c.(352-354)ggG>ggA	p.G118G	PNPLA1_uc010jwe.1_Silent_p.G23G|PNPLA1_uc003olw.1_Silent_p.G23G	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	118	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCACCACGGGGAAGCTCCATG	0.597000														29			7		0	0	1	0	0
OSTM1	28962	broad.mit.edu	37	6	108395683	108395683	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:108395683A>G	uc003psd.3	-	0	259	c.173T>C	c.(172-174)tTg>tCg	p.L58S		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	Homo sapiens osteopetrosis associated transmembrane protein 1 (OSTM1), mRNA.	58						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		GGACAGGGACAAGTCCTCCAC	0.692000														1			4		0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038442	131038442	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:131038442G>A	uc004bup.3	+	0	18	c.18G>A	c.(16-18)caG>caA	p.Q6Q	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Silent_p.Q6Q	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	6					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCGTGGCCAGAGGGACCTGT	0.647000														82			32		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54893224	54893224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:54893224C>T	uc001sgc.4	+	1	267	c.188C>T	c.(187-189)cCc>cTc	p.P63L	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.P13L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	63					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAGAAATTTCCCAACATAGAT	0.423000														25			19		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527066	132527066	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:132527066C>T	uc010sck.2	-	1	366	c.316G>A	c.(316-318)Gat>Aat	p.D106N	OPCML_uc001qgu.3_Missense_Mutation_p.D99N|OPCML_uc001qgs.3_Missense_Mutation_p.D106N|OPCML_uc001qgt.3_Missense_Mutation_p.D106N|OPCML_uc010scl.2_Missense_Mutation_p.D65N	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	106	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCATACACATCCACATTTTGG	0.502000														38			20		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152510568	152510568	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:152510568C>T	uc021vrb.1	-	49	6882	c.6853G>A	c.(6853-6855)Gat>Aat	p.D2285N	NEB_uc002txu.3_Missense_Mutation_p.D2285N|NEB_uc021vrc.1_Missense_Mutation_p.D2285N|NEB_uc010fnx.3_Missense_Mutation_p.D2285N|NEB_uc021vrd.1_Missense_Mutation_p.D2285N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2285					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTGGGAGATCATAGCCTTTC	0.323000														31			6		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532419	42532419	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:42532419C>T	uc010dni.3	+	3	3410	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1038						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TACAAGGGTTCAGCTACCCTA	0.448000									Schinzel-Giedion syndrome					21			21		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986412	51986412	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:51986412C>T	uc002pwv.1	+	4	998	c.998C>T	c.(997-999)tCc>tTc	p.S333F		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	333	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACAATGGCTCCCTCCTGAAC	0.527000														81			38		0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43386718	43386718	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:43386718G>A	uc010ggu.3	-	2	414	c.347C>T	c.(346-348)cCc>cTc	p.P116L	RIMS4_uc002xms.3_Missense_Mutation_p.P115L	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	115	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CTCACCCATGGGTGTGGTGGC	0.602000														58			27		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32753925	32753925	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:32753925C>T	uc001utx.3	+	22	3481	c.2985C>T	c.(2983-2985)tcC>tcT	p.S995S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAACAAATTCCCTTGTTTTCA	0.388000														65			32		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369074	22369074	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:22369074C>T	uc010tzu.2	+	0	597	c.499C>T	c.(499-501)Cct>Tct	p.P167S	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167A(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTCGACTTCCTTTCTGTGG	0.493000														25			74		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39983347	39983347	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:39983347C>T	uc010ggh.3	+	11	1684	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	LPIN3_uc002xjx.3_Silent_p.S530S|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	530					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGTGGTTTTCCTGGCGACGCA	0.627000														38			79		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510894	104510894	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:104510894G>A	uc003hxe.1	-	4	1484	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	448						integral to plasma membrane	tachykinin receptor activity	p.S448T(1)|p.S448S(1)|p.A447S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGAAGTGGCGGAGGCAGATTT	0.473000														66			32		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70890393	70890393	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:70890393C>T	uc003pfc.1	+	43	2870	c.2753C>T	c.(2752-2754)cCa>cTa	p.P918L		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	918	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G917V(1)|p.P918T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTCCCTGGACCAGAAGGACCC	0.403000														49			7		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404336	20404336	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:20404336C>T	uc001vwj.2	+	0	570	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P171S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTCTGTGGTCCCAATGAGGT	0.478000														62			55		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109028135	109028135	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:109028135T>G	uc003dxo.3	-	3	471	c.224A>C	c.(223-225)aAa>aCa	p.K75T		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	75						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCATCTAGCTTTTTGTGGAGC	0.403000														40			21		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974850	49974850	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:49974850G>A	uc010rhz.2	+	0	908	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGCTCAAATGAAAAATGCCA	0.383000														27			32		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080841	148080841	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:148080841C>T	uc003weu.2	+	21	4092	c.3576C>T	c.(3574-3576)gcC>gcT	p.A1192A	CNTNAP2_uc003wev.2_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1192	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTCAAGGCCGCCTTGAGGC	0.582000										HNSCC(39;0.1)				23			15		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487190	56487190	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:56487190C>T	uc001sjh.3	+	11	1612	c.1336C>T	c.(1336-1338)Ctg>Ttg	p.L446L	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Silent_p.L387L|ERBB3_uc009zok.3_5'Flank|ERBB3_uc001sjk.3_5'Flank|ERBB3_uc001sjj.1_Silent_p.L14L	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	446					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTCCGATCCCTGAAGGAAAT	0.493000														48			16		0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132627616	132627616	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:132627616G>A	uc004bys.2	+	9	857	c.646G>A	c.(646-648)Ggg>Agg	p.G216R	USP20_uc004byr.2_Missense_Mutation_p.G216R|USP20_uc004byt.1_Missense_Mutation_p.G216R	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	216					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TCTGTCTCATGGGATCAAGTT	0.582000														24			28		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509179	71509179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:71509179G>A	uc011caw.1	+	8	2317	c.2036G>A	c.(2035-2037)gGa>gAa	p.G679E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	679					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGCTTCAAAGGAGGCCCAACA	0.418000														49			22		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796967	57796967	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:57796967C>T	uc003hch.3	+	3	2290	c.1943C>T	c.(1942-1944)cCt>cTt	p.P648L	REST_uc003hci.3_Missense_Mutation_p.P648L|REST_uc010ihf.3_Missense_Mutation_p.P322L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	648	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CGGCCTGCTCCTGACGAGCCT	0.632000														22			7		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80476026	80476026	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:80476026G>A	uc003kha.2	+	17	2769	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	907					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATGTGATAAAGAGTTTATTAT	0.453000														27			78		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130910667	130910667	+	Silent	SNP	G	A	A	rs146485657	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:130910667G>A	uc002tqq.2	-	18	3369	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	SMPD4_uc002tqo.2_Silent_p.I272I|SMPD4_uc002tqp.2_Silent_p.I479I|SMPD4_uc010yzy.2_Silent_p.I489I|SMPD4_uc010yzz.2_Silent_p.I404I|SMPD4_uc002tqs.2_Silent_p.I608I|SMPD4_uc002tqr.2_Silent_p.I711I|SMPD4_uc010zaa.2_Silent_p.I598I|SMPD4_uc010zab.2_Silent_p.I638I|SMPD4_uc002tqt.2_Silent_p.I589I|SMPD4_uc010zac.2_Silent_p.I481I|SMPD4_uc010zad.2_Silent_p.I376I	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	701					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCAAGCTGGCGATCTCATAGC	0.572000														99			22		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407205	87407205	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:87407205C>T	uc003ujb.3	+	8	1352	c.941C>T	c.(940-942)tCc>tTc	p.S314F	RUNDC3B_uc011khd.1_Missense_Mutation_p.S297F|RUNDC3B_uc011khe.2_Missense_Mutation_p.S297F|RUNDC3B_uc003ujc.3_Missense_Mutation_p.S297F|RUNDC3B_uc003ujd.3_Missense_Mutation_p.S219F	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	314										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATTGAAGATTCCGATCTGGCT	0.378000														18			20		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846349	123846349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:123846349C>T	uc001lfv.3	+	3	4694	c.4334C>T	c.(4333-4335)cCa>cTa	p.P1445L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1445L|TACC2_uc010qtv.2_Missense_Mutation_p.P1445L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1445						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCACCAGGCCATTGGGCCCA	0.587000														6			10		0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50979490	50979490	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:50979490G>A	uc002psh.3	-	0	514	c.156C>T	c.(154-156)ctC>ctT	p.L52L	FAM71E1_uc002psg.3_Silent_p.L52L|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	52										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCGGACGGAGGAGCAGAGGGA	0.652000														45			13		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	106995096	106995096	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:106995096G>A	uc001tlt.3	+	0	182	c.42G>A	c.(40-42)agG>agA	p.R14R	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Intron|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Silent_p.R14R	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	0					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGGCGACAGGACCAGGCCTC	0.667000														1			3		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44590753	44590753	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:44590753G>A	uc002xqw.3	-	9	1725	c.1602C>T	c.(1600-1602)taC>taT	p.Y534Y	ZNF335_uc010zxk.2_Silent_p.Y379Y	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CGTCCTTCCGGTAGACACTGG	0.622000														87			103		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961130	1961130	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:1961130C>T	uc010gaj.3	-	2	846	c.604G>A	c.(604-606)Gac>Aac	p.D202N	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.D202N|PDYN_uc021vzt.1_Missense_Mutation_p.D202N|PDYN_uc021vzu.1_Missense_Mutation_p.D202N|PDYN_uc002wfv.3_Missense_Mutation_p.D202N	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	202					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGTACAGGTCCTCATGGCCC	0.587000														140			50		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215963404	215963404	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:215963404C>T	uc001hku.1	-	50	10566	c.10179G>A	c.(10177-10179)atG>atA	p.M3393I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3393					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.M3392I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAATTACCTTCATCATCATTC	0.333000										HNSCC(13;0.011)				60			5		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237893645	237893645	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:237893645G>A	uc001hyl.1	+	76	11044	c.10924G>A	c.(10924-10926)Gaa>Aaa	p.E3642K	RYR2_uc010pya.2_Missense_Mutation_p.E38K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3642					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAACTGATAGAAGATTTAGC	0.403000														5			27		0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123641440	123641440	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:123641440G>A	uc001uel.3	-	19	3118	c.3010C>T	c.(3010-3012)Cgt>Tgt	p.R1004C	MPHOSPH9_uc010tal.2_Missense_Mutation_p.R458C|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.R458C	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	1004					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTTTCCAAACGATCTTCCAAG	0.378000														18			12		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10222145	10222145	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:10222145C>T	uc002gmk.1	-	26	3790	c.3700G>A	c.(3700-3702)Gac>Aac	p.D1234N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1234					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGCCATGTCGTCAATCTCC	0.577000														32			35		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791273	106791273	+	RNA	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:106791273C>T	uc021ser.1	-	619		c.17119G>A								Parts of antibodies, mostly variable regions.																		GACCACGCCTCCCCCAGACTC	0.562000														201			55		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34763556	34763556	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:34763556C>T	uc002xfb.3	+	2	432	c.261C>T	c.(259-261)ccC>ccT	p.P87P	EPB41L1_uc002xeu.3_Silent_p.P25P|EPB41L1_uc010zvo.1_Silent_p.P87P|EPB41L1_uc002xev.3_Silent_p.P87P|EPB41L1_uc002xew.3_Silent_p.P25P|EPB41L1_uc002xex.3_Silent_p.P56P|EPB41L1_uc002xey.3_Silent_p.P87P|EPB41L1_uc002xez.3_Silent_p.P25P	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	87					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGAAATCGCCCCAGAAGATTG	0.572000														68			8		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97956669	97956669	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:97956669C>T	uc001kls.4	-	15	1424	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	BLNK_uc001kme.4_Missense_Mutation_p.E311K|BLNK_uc001klt.4_Missense_Mutation_p.E307K|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Intron|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Missense_Mutation_p.E393K|BLNK_uc001kly.4_Intron|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Intron|BLNK_uc001kmb.4_Missense_Mutation_p.E212K|BLNK_uc001kmc.4_Intron|BLNK_uc001kmd.4_Missense_Mutation_p.E334K|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	416	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTGACCTCTTCACCATTTTTC	0.308000														8			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068743	9068743	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9068743G>A	uc002mkp.3	-	2	18907	c.18703C>T	c.(18703-18705)Cct>Tct	p.P6235S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6237	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTTACAGGAGAAGGTGAG	0.483000														23			27		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424524	110424524	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:110424524G>A	uc003yne.3	+	19	2220	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	706					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGACAGCTGAAACCGATGC	0.398000										HNSCC(38;0.096)				21			11		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523157	92523157	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:92523157C>T	uc001pdj.4	+	6	4401	c.4384C>T	c.(4384-4386)Cag>Tag	p.Q1462*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1462	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAATTCTCTCAGCCGAATTA	0.413000										TCGA Ovarian(4;0.039)				41			17		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35244195	35244195	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:35244195C>T	uc011kas.2	-	7	1371	c.891_splice	c.e7-1	p.R297_splice		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	297						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CACACTTTCCCTAGGTTAGAG	0.438000														2			15		0	0	1	0	0
NEURL2	140825	broad.mit.edu	37	20	44519263	44519264	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:44519263_44519264GG>AA	uc002xqg.1	-	0	638_639	c.367_368CC>TT	c.(367-369)ccc>TTc	p.P123F	CTSA_uc002xqh.3_5'Flank|CTSA_uc002xqj.4_5'Flank|CTSA_uc010zxi.2_5'Flank|CTSA_uc002xqi.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	Homo sapiens neuralized homolog 2 (Drosophila) (NEURL2), mRNA.	123	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCCCTCCCGGGGCACGCGGTTG	0.688000														53			13		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56349180	56349180	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:56349180C>T	uc002ivu.1	-	10	2043	c.1866G>A	c.(1864-1866)agG>agA	p.R622R		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	622					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ATTTCAGGTTCCTCAGCACCG	0.612000														14			60		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741455	52741455	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:52741455G>C	uc001wzq.3	+	1	955	c.853G>C	c.(853-855)Gct>Cct	p.A285P		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	285						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	ACAGTATCGCGCTTACTATGG	0.393000														26			12		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021119	142021119	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:142021119G>A	uc011krr.1	+	1	284	c.99G>A	c.(97-99)acG>acA	p.T33T	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.T33T					SubName: Full=V_segment translation product; Flags: Fragment;																		TGATCAAAACGAGAGGACAGC	0.537000														12			17		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405118	105405119	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:105405118_105405119AC>TT	uc003yly.4	-	7	1465_1466	c.1336_1337GT>AA	c.(1336-1338)gtg>AAg	p.V446K	DPYS_uc010mcf.1_Missense_Mutation_p.V16K	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	446					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCATATACCACTTTGCCTCTT	0.441000														82			78		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:28284008C>T	uc009xky.3	-	1	162	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ARMC4_uc001itz.3_Missense_Mutation_p.E22K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	22							binding	p.E22K(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000														32			5		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183857636	183857636	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:183857636C>T	uc001gqm.3	+	8	1546	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	RGL1_uc010pof.1_Missense_Mutation_p.S132F|RGL1_uc010pog.2_Missense_Mutation_p.S325F|RGL1_uc010poh.2_Missense_Mutation_p.S325F|RGL1_uc001gqo.3_Missense_Mutation_p.S327F|RGL1_uc010poi.2_Missense_Mutation_p.S327F	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	327	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AATTTTTCCTCCTTGAGGGCC	0.428000														172			26		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99515695	99515695	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:99515695G>A	uc001vnt.2	-	30	3452	c.3397C>T	c.(3397-3399)Cgt>Tgt	p.R1133C	DOCK9_uc001vnw.2_Missense_Mutation_p.R1132C|DOCK9_uc021rlw.1_Missense_Mutation_p.R1132C|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.R1133C|DOCK9_uc010tis.1_Missense_Mutation_p.R1132C|DOCK9_uc010tit.1_Missense_Mutation_p.R1133C|DOCK9_uc010tiq.1_Missense_Mutation_p.R111C|DOCK9_uc010afu.1_Missense_Mutation_p.R979C	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1133					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCGATCAGACGGACCTCCCGG	0.507000														53			16		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1339614	1339614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:1339614C>T	uc003boz.3	+	6	967	c.700C>T	c.(700-702)Cct>Tct	p.P234S	CNTN6_uc010hbo.2_Missense_Mutation_p.P229S|CNTN6_uc011asj.2_Missense_Mutation_p.P162S|CNTN6_uc003bpa.3_Missense_Mutation_p.P234S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	234	Ig-like C2-type 3.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTGCGTTTTCCTGAAACTAT	0.358000														26			28		0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954402	10954402	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:10954402G>A	uc001qyv.3	-	0	825	c.768C>T	c.(766-768)tcC>tcT	p.S256S		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	256					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TAAAGTAGCTGGAGGTGGCAA	0.453000														28			22		0	0	1	0	0
GPR180	160897	broad.mit.edu	37	13	95264595	95264595	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:95264595C>T	uc001vly.3	+	2	534	c.456C>T	c.(454-456)aaC>aaT	p.N152N	GPR180_uc001vlz.3_Silent_p.N51N|GPR180_uc010afi.3_5'UTR	NM_180989	NP_851320	Q86V85	GP180_HUMAN	Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA.	152						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGTTACTAAACCCAGATGCCG	0.368000														22			30		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349308	90349308	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:90349308G>A	uc002bop.4	-	1	799	c.507C>T	c.(505-507)tcC>tcT	p.S169S		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	169	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCTTCACCAGGGAGCCCTTGA	0.627000														15			71		0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150935148	150935148	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:150935148G>A	uc003wjr.1	+	3	3213	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	CHPF2_uc003wjq.1_Missense_Mutation_p.R559Q|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	567						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTCGCTGTGCGAGCAGAGGCC	0.632000														25			25		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112005953	112005953	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:112005953G>A	uc004bdz.1	-	14	1649	c.1354C>T	c.(1354-1356)Cat>Tat	p.H452Y	EPB41L4B_uc004bea.3_Missense_Mutation_p.H452Y	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	452						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATATTAGGATGATATTGAGGC	0.463000														18			7		0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156786498	156786498	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:156786498C>T	uc009wsh.2	-	0	143	c.3G>A	c.(1-3)atG>atA	p.M1I	SH2D2A_uc001fqc.1_5'Flank|SH2D2A_uc001fqd.2_Missense_Mutation_p.M1I|SH2D2A_uc001fqe.2_5'UTR|SH2D2A_uc010phs.1_Missense_Mutation_p.M1I|NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	1					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGGGAACTCCATGAGGGCAG	0.582000														58			8		0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508385	144508385	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:144508385C>T	uc003qks.4	+	1	813	c.621C>T	c.(619-621)atC>atT	p.I207I	STX11_uc021zgk.1_Silent_p.I207I	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	207	t-SNARE coiled-coil homology.			ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TCAACGAGATCGAGAGCCGCC	0.642000									Familial Hemophagocytic Lymphohistiocytosis					39			15		0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219103464	219103464	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:219103464T>C	uc002vhd.3	+	5	458	c.346T>C	c.(346-348)Ttg>Ctg	p.L116L	ARPC2_uc002vhe.3_Silent_p.L116L|ARPC2_uc002vhf.3_Silent_p.L2L	NM_152862	NP_690601	O15144	ARPC2_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.	116					cellular component movement	Arp2/3 protein complex|Golgi apparatus|cell projection	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGCTGGCATGTTGAAGCGAAA	0.413000														35			88		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029628	71029628	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:71029628G>A	uc001swc.4	-	1	319	c.274C>T	c.(274-276)Cga>Tga	p.R92*	PTPRB_uc001swa.4_Nonsense_Mutation_p.R92*|PTPRB_uc001swd.4_Nonsense_Mutation_p.R91*|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Nonsense_Mutation_p.R92*	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGGTCCATCGGGGTGCCTGG	0.547000														4			8		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112650407	112650407	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:112650407G>A	uc021reb.1	-	48	7507	c.7111C>T	c.(7111-7113)Cct>Tct	p.P2371S	C12orf51_uc001ttr.1_Missense_Mutation_p.P258S	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGTCCCGGAGGAGGTGGAGTC	0.532000														29			26		0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34152949	34152949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:34152949C>T	uc001mvk.3	+	13	1635	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	NAT10_uc010ren.2_Missense_Mutation_p.S392F	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	464						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TATGAGGTTTCCCTCCAGGAG	0.458000														40			16		0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124622007	124622007	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:124622007G>A	uc001qas.3	-	0	103	c.27C>T	c.(25-27)ctC>ctT	p.L9L	VSIG2_uc001qat.3_Silent_p.L9L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	9						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GGGCCCCGCAGAGAAAGGGCC	0.731000														8			6		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36689450	36689450	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:36689450G>A	uc003apg.3	-	29	4251	c.4020C>T	c.(4018-4020)tcC>tcT	p.S1340S		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1340					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCCGGAAGGAATTCTTCT	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					58			30		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701678	50701678	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:50701678G>A	uc002xwk.3	-	8	1705	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	ZFP64_uc002xwj.3_Silent_p.T233T	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E452K(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGCCTTCATGGTGCAGCGGA	0.562000														44			63		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974480	44974480	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:44974480C>T	uc001wvn.3	-	0	2020	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	571	Ala-rich.					cilium		p.E570*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGAGGGGCCTCTTCTATAGAA	0.517000														30			11		0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60861677	60861677	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:60861677C>T	uc002yck.1	+	10	1237	c.1035C>T	c.(1033-1035)gaC>gaT	p.D345D	OSBPL2_uc002ycl.1_Silent_p.D333D|OSBPL2_uc011aah.1_Silent_p.D253D	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	345					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ACGTGGCTGACGACGTGCCTG	0.647000														127			59		0	0	1	0	0
H3F3C	440093	broad.mit.edu	37	12	31944879	31944879	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:31944879G>A	uc001rkr.3	-	0	297	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	74					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AATCCTGCGCGATCTCCCTCA	0.587000										HNSCC(67;0.2)				60			27		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020782	5020782	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:5020782C>T	uc010qyu.2	+	0	570	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAGATTATCCTGTACAGATG	0.438000														27			41		0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481454	95481455	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:95481454_95481455GG>AA	uc004asp.1	-	4	1529_1530	c.1472_1473CC>TT	c.(1471-1473)gcc>gTT	p.A491V	BICD2_uc004aso.1_Missense_Mutation_p.A491V	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	491					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCTGGCGGCTGGCCTTCTCTAG	0.678000														34			43		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43985983	43985984	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:43985983_43985984GG>AA	uc003bdy.2	-	23	3316_3317	c.3002_3003CC>TT	c.(3001-3003)acc>aTT	p.T1001I	EFCAB6_uc003bdz.2_Missense_Mutation_p.T849I|EFCAB6_uc010gzi.2_Missense_Mutation_p.T849I|EFCAB6_uc010gzj.1_Missense_Mutation_p.T227I	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1001					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTCCCCTTCGGTAAGAGAACA	0.411000														63			39		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554618	34554618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:34554618C>T	uc001bxm.1	-	1	541	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	CSMD2_uc001bxn.1_Missense_Mutation_p.V82M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	82	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATCAAACACCGACAGGACA	0.557000														18			27		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123427578	123427578	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:123427578C>T	uc003ego.3	-	14	2389	c.2107G>A	c.(2107-2109)Gag>Aag	p.E703K	MYLK_uc011bjw.2_Missense_Mutation_p.E703K|MYLK_uc003egp.3_Missense_Mutation_p.E634K|MYLK_uc003egq.3_Missense_Mutation_p.E703K|MYLK_uc003egr.3_Missense_Mutation_p.E634K|MYLK_uc003egs.3_Missense_Mutation_p.E527K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	703	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGCGGACCTCTCCAGCGCTG	0.597000														27			28		0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27353522	27353522	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:27353522C>T	uc002don.3	+	3	393	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	IL4R_uc002dom.3_Missense_Mutation_p.P51S|IL4R_uc002dop.4_Missense_Mutation_p.P36S|IL4R_uc010bxy.3_Missense_Mutation_p.P51S|IL4R_uc002doo.3_5'UTR	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	51					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATGAATGGTCCCACCAATTG	0.577000														57			34		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33276317	33276317	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:33276317G>A	uc001bvy.1	-	2	1043	c.255C>T	c.(253-255)gcC>gcT	p.A85A		NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	85					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GTTCCCATGGGGCTTTCATGT	0.458000														111			11		0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143959720	143959720	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:143959720G>A	uc002tvm.4	+	2	334	c.183G>A	c.(181-183)agG>agA	p.R61R	ARHGAP15_uc010zbl.1_Silent_p.R61R	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	61					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GACACAGAAGGAATCATTCAC	0.289000														55			11		0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002663	41002663	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:41002663C>T	uc003opi.3	-	1	250	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	UNC5CL_uc010jxe.1_Missense_Mutation_p.E51K	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	51					signal transduction	cytoplasm|integral to membrane		p.E50*(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GACACTGGTTCCTCTTGACCA	0.592000														72			13		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76905809	76905809	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:76905809C>T	uc001xsr.3	+	3	484	c.113C>T	c.(112-114)tCg>tTg	p.S38L	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.S38L	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCAGTGGCTCGTCCGACGCC	0.701000														48			17		0	0	1	0	0
FAM55B	120406	broad.mit.edu	37	11	114568828	114568828	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:114568828C>T	uc009yyy.2	+	2	292	c.194C>T	c.(193-195)tCa>tTa	p.S65L		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	65						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						AAAAAATATTCACACTCTGAA	0.378000														8			6		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23656240	23656240	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:23656240C>T	uc002zww.3	+	20	4139	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	BCR_uc002zwx.3_Silent_p.F1137F|BCR_uc011aiy.2_Silent_p.F770F	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1181	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCTTCCTTTTCCTTCTGGACC	0.627000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									57			64		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120629431	120629431	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:120629431G>A	uc003yos.2	-	6	716	c.630C>T	c.(628-630)acC>acT	p.T210T	ENPP2_uc010mdd.2_Silent_p.T210T|ENPP2_uc003yot.2_Silent_p.T210T	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	210					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTTAGGAAAGGTTTTAGTTG	0.403000														19			14		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718576	25718576	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:25718576C>T	uc003xes.2	-	12	1596	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G444E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGATTATTTCCTTGTGTTGA	0.473000														54			39		0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19125788	19125788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:19125788G>A	uc002zou.3	-	6	902	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	289					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GACTCCTGGGGGATCAGCTCC	0.627000														28			19		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632916	32632916	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:32632916G>A	uc003zrg.1	-	0	2752	c.2662C>T	c.(2662-2664)Cgt>Tgt	p.R888C	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	888					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.R888C(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTTGGTAAACGAAAATCAGAC	0.478000														68			24		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76349196	76349196	+	Missense_Mutation	SNP	C	T	T	rs11844617		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:76349196C>T	uc010ask.2	+	30	4011	c.3736C>T	c.(3736-3738)Ccc>Tcc	p.P1246S	TTLL5_uc001xrx.3_Missense_Mutation_p.P1231S|TTLL5_uc001xrz.3_Missense_Mutation_p.P806S|TTLL5_uc001xsa.3_Missense_Mutation_p.P305S	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	1231					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAACCCCCACCCAACCACGA	0.473000														59			16		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789684	96789684	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:96789684C>T	uc010yui.2	-	8	1201	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	401					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ATTCCTGCTTCTGAAGATGGG	0.592000														62			14		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66947073	66947073	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:66947073G>A	uc002eql.3	-	8	1209	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	CDH16_uc010cdy.3_Missense_Mutation_p.R339C|CDH16_uc021tjx.1_Missense_Mutation_p.R339C|CDH16_uc002eqm.3_Missense_Mutation_p.R242C	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	339					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGGGGTCACGGGGAGGGCAG	0.582000														113			65		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41751801	41751801	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:41751801G>A	uc003azw.3	+	18	2425	c.2209G>A	c.(2209-2211)Gcc>Acc	p.A737T		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	753					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GATGTCCAAGGCCAAGAGGAA	0.617000														18			9		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614473	3614473	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:3614473C>T	uc010btn.3	-	4	876	c.465G>A	c.(463-465)gtG>gtA	p.V155V		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	155	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGAAGTGCCTCACCAGGGTGG	0.657000														44			28		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17593285	17593285	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:17593285C>T	uc001bai.3	+	4	520	c.480C>T	c.(478-480)agC>agT	p.S160S		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	160					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGATCCGAGCTGTGATGTCC	0.597000														32			105		0	0	1	0	0
HPDL	84842	broad.mit.edu	37	1	45793816	45793816	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:45793816T>C	uc001cne.3	+	0	1272	c.996T>C	c.(994-996)acT>acC	p.T332T		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase-like (HPDL), mRNA.	332					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCCTTTTTACTGAGGACACTT	0.542000														119			16		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72473631	72473631	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:72473631C>T	uc002jkv.3	+	3	911	c.590C>T	c.(589-591)tCc>tTc	p.S197F	CD300A_uc002jkw.3_Missense_Mutation_p.S84F|CD300A_uc010dfr.3_Missense_Mutation_p.S84F|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	197					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GTGGGGGCCTCCCTGCTAGCC	0.622000														31			10		0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355167	114355167	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:114355167A>G	uc002tkh.3	+	3	602	c.544A>G	c.(544-546)Atg>Gtg	p.M182V	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript|WASH2P_uc002tkf.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		GCTGCGCAGCATgaaggagcg	0.662000														12			6		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236877164	236877164	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:236877164C>T	uc002vvs.3	+	12	2140	c.1542C>T	c.(1540-1542)ccC>ccT	p.P514P	AGAP1_uc002vvt.3_Silent_p.P461P	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	514	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCACCAGCCCCAAGCTCGACC	0.562000														19			30		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401926	140401926	+	Missense_Mutation	SNP	G	A	A	rs149885263		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:140401926G>A	uc003eto.2	+	1	1170	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	322						intracellular	zinc ion binding	p.H321H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAATGGCCACGACACCATTAG	0.557000														30			33		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145537180	145537180	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:145537180C>T	uc001eoa.3	+	18	2427	c.2351C>T	c.(2350-2352)cCc>cTc	p.P784L	ITGA10_uc010oyv.2_Missense_Mutation_p.P653L|ITGA10_uc009wiw.3_Missense_Mutation_p.P641L|ITGA10_uc010oyw.2_Missense_Mutation_p.P729L	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	784					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCAGGTCCCCTTCTCAAAG	0.463000														25			72		0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77304240	77304240	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:77304240G>A	uc001xsx.2	+	4	635	c.521G>A	c.(520-522)gGt>gAt	p.G174D	C14orf166B_uc010asn.1_Intron|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	174										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AATCACCTTGGTTTGGAGGGG	0.423000														5			5		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20422901	20422901	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:20422901C>T	uc002dhe.3	+	1	242	c.95C>T	c.(94-96)cCt>cTt	p.P32L	ACSM5_uc002dhd.1_Missense_Mutation_p.P32L	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	32					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTACCTGTTCCTCAGAAGATC	0.577000														26			15		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120732707	120732707	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:120732707C>T	uc001pxn.2	+	8	1071	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	GRIK4_uc009zav.1_Missense_Mutation_p.R262C|GRIK4_uc009zaw.1_Missense_Mutation_p.R262C|GRIK4_uc009zax.1_Missense_Mutation_p.R262C	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	262					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TGTGGATGATCGTGTCAACAT	0.483000														78			95		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651333	96651333	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:96651333A>G	uc003pop.4	+	2	643	c.302A>G	c.(301-303)aAc>aGc	p.N101S	FUT9_uc021zcw.1_Missense_Mutation_p.N101S	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	101					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TCACTGTACAACAAATCCCAT	0.488000														40			17		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808646	8808646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:8808646C>T	uc002mkl.2	-	0	527	c.406G>A	c.(406-408)Gac>Aac	p.D136N		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	136						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						ACTCGGAGGTCGTGCTCCAGC	0.687000														36			21		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49433939	49433939	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:49433939G>A	uc001rta.4	-	30	7614	c.7614C>T	c.(7612-7614)ttC>ttT	p.F2538F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2538	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTGCCTGAGGGAAAGTGAAAC	0.637000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				17			7		0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056685	7056685	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:7056685C>T	uc003gjw.4	+	1	1318	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	TADA2B_uc010idi.3_Silent_p.S314S|TADA2B_uc021xle.1_Silent_p.S297S	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	Homo sapiens transcriptional adaptor 2B (TADA2B), mRNA.	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAATCCCCTCCAAAAGCCGCC	0.488000														42			18		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520818	131520818	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:131520818C>T	uc021voy.1	+	0	1173	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	FAM123C_uc002trw.2_Silent_p.F391F|FAM123C_uc010fmv.2_Silent_p.F391F|FAM123C_uc010fms.1_Silent_p.F391F|FAM123C_uc010fmt.1_Silent_p.F391F|FAM123C_uc010fmu.1_Silent_p.F391F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	391										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		ATGATTCCTTCTCGCCAGGAC	0.622000														14			46		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752390	15752390	+	Silent	SNP	G	A	A	rs150573744	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:15752390G>A	uc010xok.2	+	1	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	CYP4F3_uc010xol.2_Silent_p.P55P|CYP4F3_uc002nbj.3_Silent_p.P55P|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Silent_p.P55P	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	55					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGCAACCCCCGAAACGGAATT	0.617000														32			61		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519227	58519227	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:58519227C>T	uc003dkl.3	-	4	703	c.528G>A	c.(526-528)caG>caA	p.Q176Q		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	176					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCACAAACTCCTGGGTGGCTG	0.537000											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419360	179419360	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:179419360C>T	uc021vsy.1	-	280	81235	c.81010G>A	c.(81010-81012)Gaa>Aaa	p.E27004K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E20699K|TTN_uc021vta.1_Missense_Mutation_p.E20632K|TTN_uc021vtb.1_Missense_Mutation_p.E20507K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27931							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGCTTTTCCACAATGTAG	0.433000														67			12		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391630	31391630	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:31391630C>T	uc002ebt.3	+	26	3171	c.3104C>T	c.(3103-3105)cCc>cTc	p.P1035L	ITGAX_uc002ebu.1_Missense_Mutation_p.P1035L	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1035					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGTGACGTCCCCTCCTTCAGC	0.612000														18			13		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29996879	29996879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:29996879C>T	uc010bzm.2	+	12	1824	c.1789C>T	c.(1789-1791)Cgc>Tgc	p.R597C	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.R590C|TAOK2_uc021tgf.1_Missense_Mutation_p.R590C|TAOK2_uc002dva.2_Missense_Mutation_p.R590C|TAOK2_uc002dvc.2_Missense_Mutation_p.R590C|TAOK2_uc002dvd.2_Missense_Mutation_p.R417C	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	590					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTACAAACTTCGCAAGGAACA	0.642000														27			14		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089914	10089914	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:10089914C>T	uc002mmq.1	-	39	2853	c.2767_splice	c.e39-1	p.G923_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	923	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCTGTCTTTCCCTGGTGAGG	0.592000														16			32		0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4622013	4622013	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:4622013G>A	uc001lzf.2	-	6	1241	c.951C>T	c.(949-951)atC>atT	p.I317I	TRIM68_uc010qyj.2_Non-coding_Transcript	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	317	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTCAGACACGATGAGACGGG	0.498000														15			3		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109379908	109379908	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:109379908G>A	uc010agk.2	+	3	1106	c.484G>A	c.(484-486)Gat>Aat	p.D162N	MYO16_uc001vqt.1_Missense_Mutation_p.D140N	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	140					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGATAACCCTGATATTGTCCT	0.393000														54			14		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42702021	42702021	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:42702021C>T	uc001zpn.1	+	17	2335	c.2029C>T	c.(2029-2031)Ctt>Ttt	p.L677F	CAPN3_uc001zpk.1_Missense_Mutation_p.L444F|CAPN3_uc001zpl.1_Missense_Mutation_p.L584F|CAPN3_uc010udf.1_Missense_Mutation_p.L590F|CAPN3_uc010udg.1_Missense_Mutation_p.L542F|CAPN3_uc001zpo.1_Missense_Mutation_p.L671F|CAPN3_uc001zpp.1_Missense_Mutation_p.L585F|CAPN3_uc001zpq.1_Missense_Mutation_p.L165F|CAPN3_uc010bcv.1_Missense_Mutation_p.L12F|CAPN3_uc001zpr.1_Missense_Mutation_p.L12F|CAPN3_uc001zps.1_Missense_Mutation_p.L12F|CAPN3_uc001zpt.1_Missense_Mutation_p.L12F	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	677	Domain IV.|EF-hand 1.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAAGAAGGTCCTTAACACAGT	0.547000														22			80		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77676127	77676127	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:77676127C>T	uc011cbx.2	+	6	5444	c.4491C>T	c.(4489-4491)tcC>tcT	p.S1497S	SHROOM3_uc003hkg.3_Silent_p.S1275S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1497					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.P1497L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGCGGGACTCCCCGCCACCTC	0.587000														27			25		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27216271	27216271	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:27216271C>T	uc010hfk.3	-	5	724	c.495G>A	c.(493-495)ctG>ctA	p.L165L	NEK10_uc003cds.1_Silent_p.L250L|NEK10_uc010hfj.3_Silent_p.L165L			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	853							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTTCACTTTTCAGGCTGGCTG	0.498000														39			51		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54558059	54558059	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:54558059T>C	uc002iun.1	+	15	2015	c.1980T>C	c.(1978-1980)tcT>tcC	p.S660S		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	660										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAAAGCTTTCTGGCTCTGAAT	0.408000														97			4		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2129389	2129389	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:2129389G>A	uc002lva.3	-	6	883	c.660C>T	c.(658-660)tcC>tcT	p.S220S	AP3D1_uc002luy.3_Intron|AP3D1_uc002luz.3_Silent_p.S220S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	220					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGGCCAGGGACAGGTAGT	0.572000														16			15		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901064	123901064	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:123901064C>T	uc001pzp.1	+	0	735	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I245I(2)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCCACTGTATCGTGGTCCTTT	0.537000														43			16		0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48953743	48953743	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:48953743G>A	uc001vcb.3	+	13	1512	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	449	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.G449fs*8(2)|p.L448L(1)|p.G449R(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACAAACTTGGAGTTCGCTTG	0.343000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				14			7		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95541354	95541355	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:95541354_95541355GG>AA	uc003ygo.2	-	6	894_895	c.823_824CC>TT	c.(823-825)cct>TTt	p.P275F	KIAA1429_uc003ygp.3_Missense_Mutation_p.P275F|KIAA1429_uc010maz.2_5'Flank	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	275	Glu-rich.				RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ttcctcctcAGGAATACTGTCT	0.436000														19			14		0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205197873	205197873	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:205197873C>T	uc021pia.1	+	0	836	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	TMCC2_uc010prf.2_5'Flank	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	61						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAACCCAGGTCCCCGAAGCAA	0.682000														34			5		0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65147339	65147339	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:65147339G>A	uc001odr.1	-	4	357	c.153_splice	c.e4+1	p.S51_splice	SLC25A45_uc009yqi.1_Splice_Site_p.S51_splice|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001ods.1_Splice_Site_p.S9_splice|SLC25A45_uc001odt.1_Splice_Site_p.S9_splice	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	51					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GCCACTCACGGACTCATGGCG	0.612000														24			22		0	0	1	0	0
ZBTB37	84614	broad.mit.edu	37	1	173842613	173842613	+	Missense_Mutation	SNP	C	T	T	rs143889150		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:173842613C>T	uc009wwp.1	+	3	1208	c.932C>T	c.(931-933)cCc>cTc	p.P311L	ZBTB37_uc001gjp.1_Intron|ZBTB37_uc001gjq.4_Missense_Mutation_p.P311L|ZBTB37_uc001gjr.2_Missense_Mutation_p.P311L	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	Homo sapiens zinc finger and BTB domain containing 37 (ZBTB37), transcript variant 1, mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AGATTTAGCCCCTCCGGCAGT	0.488000														59			4		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693338	94693338	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:94693338C>T	uc011cdt.2	+	15	2971	c.2713C>T	c.(2713-2715)Ctg>Ttg	p.L905L	GRID2_uc011cdu.2_Silent_p.L810L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	905					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTGACCCCTCTGGACATTGA	0.458000														56			19		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107506	42107506	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:42107506C>T	uc001zok.4	+	11	1524	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	MAPKBP1_uc010bci.3_Missense_Mutation_p.S407F|MAPKBP1_uc010udb.2_Intron|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S407F|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	413										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCCCCAGTTCCTTTATTACC	0.582000														7			37		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701840	30701840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:30701840G>A	uc003xil.3	-	0	4694	c.4694C>T	c.(4693-4695)tCc>tTc	p.S1565F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1565										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCCTGGTTTGGAAATATAGGC	0.398000														74			43		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32234801	32234801	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:32234801C>T	uc011alu.2	+	26	2687	c.2485C>T	c.(2485-2487)Ccg>Tcg	p.P829S	DEPDC5_uc011als.2_Missense_Mutation_p.P751S|DEPDC5_uc003als.3_Missense_Mutation_p.P820S|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P820S|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.P269S|DEPDC5_uc011alw.1_Missense_Mutation_p.P150S|DEPDC5_uc003alw.3_Missense_Mutation_p.P118S|DEPDC5_uc011alx.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	820					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTCCCGCCCCCGCTGAGCAG	0.473000														87			50		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10360776	10360776	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:10360776G>A	uc002gmn.3	-	15	1969	c.1858C>T	c.(1858-1860)Ctg>Ttg	p.L620L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	620	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGAAAGCCAGAGTCTTCATT	0.478000														14			36		0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11658686	11658686	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:11658686G>A	uc002msc.1	+	4	629	c.465G>A	c.(463-465)ggG>ggA	p.G155G	CNN1_uc010xmb.1_Silent_p.G105G|CNN1_uc010xmc.1_Silent_p.G105G	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	155					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TCGAGCCGGGGAAGCTAAGAG	0.587000														19			15		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578569	9578569	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9578569C>T	uc002mlp.1	-	9	1264	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	ZNF560_uc010dwr.1_Missense_Mutation_p.E246K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTCCACATTCCTTACATTCA	0.373000														33			40		0	0	1	0	0
SRRM3	222183	broad.mit.edu	37	7	75877511	75877511	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:75877511C>A	uc010ldi.2	+	2	448	c.239C>A	c.(238-240)tCg>tAg	p.S80*		NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TGCAGGTATTCGGAGGAGGAG	0.632000														10			8		1.12685e-05	1.13407e-05	1	1	0
DEPDC5	9681	broad.mit.edu	37	22	32215149	32215149	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:32215149C>T	uc011alu.2	+	21	2010	c.1808C>T	c.(1807-1809)cCc>cTc	p.P603L	DEPDC5_uc011als.2_Missense_Mutation_p.P603L|DEPDC5_uc003als.3_Missense_Mutation_p.P603L|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P603L|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.P43L|DEPDC5_uc011alt.2_Missense_Mutation_p.P575L	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	603					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCCTTCGCTCCCTCTCGGATG	0.542000														86			56		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027248	55027248	+	Missense_Mutation	SNP	G	A	A	rs149703805	by1000genomes	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:55027248G>A	uc002xxp.2	+	5	1241	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	CASS4_uc002xxq.4_Missense_Mutation_p.R339Q|CASS4_uc010zze.1_Missense_Mutation_p.R285Q|CASS4_uc002xxr.2_Missense_Mutation_p.R339Q|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	339					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGATTCCCCGAGTGGAACAG	0.473000														58			33		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783060	164783060	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:164783060G>A	uc003fei.3	-	6	859	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	266	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCACCAGGAAGTTGGTCTCGA	0.294000										HNSCC(35;0.089)				23			9		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35740309	35740309	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:35740309C>T	uc003jjo.3	+	22	3381	c.3270C>T	c.(3268-3270)tcC>tcT	p.S1090S	SPEF2_uc003jjp.1_Silent_p.S576S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1090					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTCAACTCCCTTCCTGATG	0.438000														62			35		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51239808	51239808	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:51239808G>A	uc001wyi.3	-	7	863	c.672C>T	c.(670-672)ctC>ctT	p.L224L	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.L224L|NIN_uc001wyk.3_Silent_p.L224L|NIN_uc001wyo.3_Silent_p.L224L|NIN_uc001wyp.1_Silent_p.L186L	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	224	EF-hand 4.				centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATACTTCCTCGAGCATCTAGA	0.363000			T	PDGFRB	MPD									18			25		0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114523104	114523104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:114523104C>T	uc001eer.1	+	1	374	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	OLFML3_uc001ees.1_Missense_Mutation_p.R69C|OLFML3_uc001eet.1_5'UTR	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	89					multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAGTGGATCGTCTGGAGCG	0.587000														22			63		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977544	71977544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:71977544C>T	uc001swl.3	+	17	1802	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	LGR5_uc001swm.3_Missense_Mutation_p.S561F|LGR5_uc021rar.1_Missense_Mutation_p.S513F|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	585						integral to plasma membrane	protein-hormone receptor activity	p.R584K(2)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTTTTCAGATCCCCTCTGTAC	0.502000														57			28		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285118	28285118	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:28285118G>A	uc001bpg.3	+	7	1328	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	SMPDL3B_uc010ofq.2_Silent_p.L173L|SMPDL3B_uc010ofr.2_Silent_p.L331L|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	379					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ACACAGTGCTGGACCGCATCG	0.647000														28			93		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106471464	106471464	+	RNA	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:106471464C>T	uc021ser.1	-	2492		c.43526G>A								Parts of antibodies, mostly variable regions.																		AAGGTGTATCCAGAAGCCTTG	0.557000														114			16		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542653	14542653	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:14542653C>T	uc010dln.3	-	0	947	c.493G>A	c.(493-495)Gac>Aac	p.D165N	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	165								p.T164T(2)|p.T164M(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTTCATGTCCGTGTCCCTG	0.592000														79			44		0	0	1	0	0
DEFB110	245913	broad.mit.edu	37	6	49976967	49976967	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:49976967G>A	uc011dwr.2	-	1	119	c.73C>T	c.(73-75)Cca>Tca	p.P25S		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA.	24					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					CTATACTTTGGTTCAAAATTG	0.313000														16			35		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69885786	69885786	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:69885786C>T	uc011cao.1	-	2	308	c.182G>A	c.(181-183)tGg>tAg	p.W61*	UGT2B10_uc011can.1_Nonsense_Mutation_p.W61*			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	105					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAAATATAACCAAAATGTATC	0.294000														10			16		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58118608	58118608	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:58118608G>A	uc003djj.2	+	25	4629	c.4464G>A	c.(4462-4464)gaG>gaA	p.E1488E	FLNB_uc010hne.2_Silent_p.E1519E|FLNB_uc003djk.2_Silent_p.E1488E|FLNB_uc010hnf.2_Silent_p.E1488E|FLNB_uc003djl.2_Silent_p.E1319E|FLNB_uc003djm.2_Silent_p.E1319E	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1488	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CATCTCAGGAGGGACCTTACA	0.502000														13			13		0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12868835	12868835	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:12868835C>T	uc002mux.3	+	8	1474	c.1474C>T	c.(1474-1476)Ccg>Tcg	p.P492S		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	492					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCCCCGGGGTCCGGCGCCACC	0.697000														16			15		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45706962	45706962	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:45706962G>A	uc002zei.2	+	2	536	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	137					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGCCTCAGAAGAGGCTCGAGC	0.692000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					30			24		0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077931	81077931	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:81077931C>T	uc002ffz.1	+	3	1846	c.1828C>T	c.(1828-1830)Cgt>Tgt	p.R610C	ATMIN_uc002fga.2_Missense_Mutation_p.R452C|ATMIN_uc010vnn.1_Missense_Mutation_p.R381C|ATMIN_uc002fgb.1_Missense_Mutation_p.R452C	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	610					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ATTGGATCATCGTAGTCTTTT	0.433000														19			21		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54147374	54147374	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:54147374G>A	uc002rxp.2	-	18	2432	c.2376C>T	c.(2374-2376)ctC>ctT	p.L792L	PSME4_uc010yop.1_Silent_p.L678L|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Silent_p.L167L|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Silent_p.L777L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	792					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.L678L(1)|p.L792L(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAGTTTGACGAGCTCAGGCT	0.403000														247			45		0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78477464	78477464	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:78477464T>C	uc001vkp.1	-	3	1051	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E	EDNRB_uc001vkq.1_Missense_Mutation_p.K210E|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Missense_Mutation_p.K210E|EDNRB_uc010aez.1_Missense_Mutation_p.K210E	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CCAATTCCTTTAATTCTACTC	0.358000														68			25		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126137305	126137305	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:126137305G>A	uc010hsg.1	+	4	485	c.426G>A	c.(424-426)aaG>aaA	p.K142K	CCDC37_uc003eiu.1_Silent_p.K141K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	141								p.K141N(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CAGCAGAAAAGAATGTGGAGC	0.607000														25			30		0	0	1	0	0
CLEC18A	348174	broad.mit.edu	37	16	70211332	70211332	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:70211332C>T	uc002eyk.3	+	2	659	c.405C>T	c.(403-405)agC>agT	p.S135S	CLEC18A_uc002exy.3_Intron	NM_173619	NP_775890	A5D8T8	CL18A_HUMAN	Homo sapiens C-type lectin domain family 18, member C (CLEC18C), mRNA.	135	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						AGCGGTACAGCCACGCGGCAG	0.632000														76			9		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175423	133175423	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:133175423G>A	uc002ttl.3	+	0	1277	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	270						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGAAGTCCGAGAGCGAAGA	0.617000														79			15		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123725027	123725027	+	Missense_Mutation	SNP	G	C	C	rs121909588		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:123725027G>C	uc004bkv.3	-	35	4456	c.4426C>G	c.(4426-4428)Cga>Gga	p.R1476G		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1476					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ATCCGGAATCGTACACAAAGG	0.363000														52			41		0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48573792	48573792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:48573792C>T	uc002rwh.1	+	2	754	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	147					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GGACCATTTTCCATATTTTGC	0.393000														48			120		0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118081247	118081248	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:118081247_118081248AC>TT	uc001psk.2	-	3	552_553	c.378_379GT>AA	c.(376-381)gtgttc>gtAAtc	p.F127I	AMICA1_uc001psh.2_Missense_Mutation_p.F88I|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.F117I|AMICA1_uc010rxw.1_Missense_Mutation_p.F88I|AMICA1_uc010rxx.1_Missense_Mutation_p.F127I|AMICA1_uc001psl.1_Missense_Mutation_p.F83I	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	127	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCCTTCTTGAACACCTGGCTCT	0.515000														29			12		0	0	1	0	0
LOC440700	440700	broad.mit.edu	37	1	165677878	165677878	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:165677878G>A	uc001gdi.3	+	2		c.474G>A								Homo sapiens carbonic anhydrase XIV (CA14) pseudogene (LOC440700), non-coding RNA.																		GATCCCCAGGGGGCTCAGAAC	0.522000														25			3		0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57188447	57188447	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:57188447T>G	uc010rjr.2	-	6	910	c.568A>C	c.(568-570)Aag>Cag	p.K190Q	SLC43A3_uc001nke.3_Missense_Mutation_p.K76Q|SLC43A3_uc001nkg.3_Missense_Mutation_p.K177Q|SLC43A3_uc001nkh.3_Missense_Mutation_p.K177Q|SLC43A3_uc009yme.3_Missense_Mutation_p.K177Q|SLC43A3_uc001nki.3_Missense_Mutation_p.K177Q|SLC43A3_uc009ymf.1_Missense_Mutation_p.K177Q|SLC43A3_uc010rjs.1_Missense_Mutation_p.K177Q|SLC43A3_uc009ymg.1_Missense_Mutation_p.K190Q	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	177					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATATTTACCTTAATAATAAGG	0.443000														10			14		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753756	48753756	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:48753756C>T	uc002isl.3	+	22	3265	c.3185C>T	c.(3184-3186)aCc>aTc	p.T1062I	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1062	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTCTTTGACACCACACCATCA	0.567000														24			83		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124747939	124747939	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:124747939C>T	uc001qbc.3	+	20	3262	c.3093C>T	c.(3091-3093)acC>acT	p.T1031T	ROBO3_uc010saq.2_3'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.2_Silent_p.T80T|ROBO3_uc001qbe.3_5'UTR|ROBO3_uc001qbf.1_5'UTR	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1031					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGCTGCAGACCTTCCATGGGG	0.632000														9			11		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241715317	241715317	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:241715317G>A	uc010fzk.3	-	10	1156	c.909C>T	c.(907-909)ttC>ttT	p.F303F	KIF1A_uc002vzy.3_Silent_p.F303F|KIF1A_uc002vzz.2_Silent_p.F303F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	303	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTACGGAATGAAATCTGTCT	0.577000														45			8		0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844504	5844504	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:5844504T>C	uc002mdk.2	-	1	444	c.347A>G	c.(346-348)aAc>aGc	p.N116S	FUT3_uc002mdm.2_Missense_Mutation_p.N116S|FUT3_uc002mdj.2_Missense_Mutation_p.N116S|FUT3_uc002mdl.2_Missense_Mutation_p.N116S|FUT3_uc021unn.1_Missense_Mutation_p.N116S|BC033124_uc002mdn.3_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	116					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGACTTAGGGTTGGACATGAT	0.627000														38			48		0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168464329	168464329	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:168464329C>T	uc003qwo.4	-	5	821	c.756G>A	c.(754-756)gaG>gaA	p.E252E	FRMD1_uc003qwm.4_Silent_p.E23E|FRMD1_uc011egs.2_Silent_p.E23E|FRMD1_uc011egt.2_Silent_p.E164E|FRMD1_uc003qwn.4_Silent_p.E184E	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	252	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCGGCAGGCCTCCTGGATGA	0.662000														25			12		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10680308	10680308	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:10680308C>T	uc002kos.2	-	47	7675	c.7501G>A	c.(7501-7503)Gga>Aga	p.G2501R	PIEZO2_uc002koq.3_Missense_Mutation_p.G293R	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2501						integral to membrane	ion channel activity										TTTGAGTTTCCTTCCAGTTCT	0.388000														21			20		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73457934	73457934	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:73457934G>A	uc004aid.3	-	4	1030	c.786C>T	c.(784-786)gaC>gaT	p.D262D	TRPM3_uc004ahu.3_Silent_p.D92D|TRPM3_uc004ahv.3_Silent_p.D92D|TRPM3_uc004ahw.3_Silent_p.D109D|TRPM3_uc004ahx.3_Silent_p.D109D|TRPM3_uc004ahy.3_Silent_p.D109D|TRPM3_uc004ahz.3_Silent_p.D109D|TRPM3_uc004aia.3_Silent_p.D109D|TRPM3_uc004aib.3_Silent_p.D109D|TRPM3_uc004aic.3_Silent_p.D262D|TRPM3_uc010mor.3_Silent_p.D262D|TRPM3_uc004aie.3_Silent_p.D109D|TRPM3_uc004aif.3_Silent_p.D109D|TRPM3_uc004aig.3_Silent_p.D109D|TRPM3_uc004aii.3_Silent_p.D264D	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	262						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTCCAATGAGGTCCTCCTGGT	0.443000														10			17		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442557	37442557	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:37442557A>T	uc021ppc.1	+	12	1696	c.1597A>T	c.(1597-1599)Aaa>Taa	p.K533*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.K533*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	589						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q532K(1)|p.Q532Q(1)|p.Q532E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TACACATCAAAAAGAAATAGA	0.308000														52			39		0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247201497	247201497	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:247201497G>A	uc001icd.2	-	3	641	c.424C>T	c.(424-426)Cat>Tat	p.H142Y	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Missense_Mutation_p.H141Y	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TGTTTGCAATGATATAACTTC	0.413000														149			14		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19544045	19544045	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:19544045C>T	uc003jgd.3	-	8	1857	c.1323G>A	c.(1321-1323)agG>agA	p.R441R	CDH18_uc011cnm.2_Silent_p.R441R|CDH18_uc003jgc.3_Silent_p.R441R|CDH18_uc021xwu.1_Silent_p.R441R	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	441	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I440T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTTTGTAGTCCTAATGGTCC	0.353000														8			33		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203140584	203140584	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:203140584G>A	uc001gzh.1	-	4	779	c.720C>T	c.(718-720)gaC>gaT	p.D240D		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	240	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		AGCGGCCAGAGTCGGAGCGCT	0.632000														54			10		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315139	12315139	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:12315139C>T	uc001mkg.1	+	2	452	c.161C>T	c.(160-162)tCg>tTg	p.S54L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	54	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCGCAAGTCTCGAGAGGTCAT	0.468000														154			48		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457496	21457496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:21457496C>T	uc001rer.3	-	4	705	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	SLCO1A2_uc010siq.2_Missense_Mutation_p.E20K|SLCO1A2_uc001res.3_Missense_Mutation_p.E152K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E20K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E20K|SLCO1A2_uc001ret.3_Missense_Mutation_p.E150K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E132K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	152					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.E152Q(2)|p.E152K(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GATTTAACTTCCTTTGTACAC	0.358000														23			25		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371451	76371451	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:76371451T>C	uc001oxq.4	-	2	1429	c.1186A>G	c.(1186-1188)Aat>Gat	p.N396D	LRRC32_uc001oxr.4_Missense_Mutation_p.N396D|LRRC32_uc010rsf.2_Missense_Mutation_p.N396D	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	396						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CGCAGGGCATTGCCCTGTAGG	0.652000														11			12		0	0	1	0	0
NAP1L4	4676	broad.mit.edu	37	11	2993357	2993357	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:2993357G>T	uc010qxm.2	-	5	574	c.290C>A	c.(289-291)gCg>gAg	p.A97E	NAP1L4_uc001lxc.3_Missense_Mutation_p.A97E|NAP1L4_uc010qxn.2_Missense_Mutation_p.A97E	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	97					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CTGGTATAGCGCTGCATACTT	0.383000														35			30		5.91797e-21	6.01904e-21	1	1	0
HEG1	57493	broad.mit.edu	37	3	124746123	124746123	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:124746123G>A	uc011bke.2	-	2	907	c.839C>T	c.(838-840)tCc>tTc	p.S280F	HEG1_uc003ehs.4_Missense_Mutation_p.S280F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	280						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGTCCTGAGGAATTTCTCTT	0.532000														2			7		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162864378	162864378	+	Silent	SNP	G	A	A	rs149699346		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:162864378G>A	uc021zhu.1	-	2	367	c.276C>T	c.(274-276)ttC>ttT	p.F92F	PARK2_uc003qtw.4_5'UTR|PARK2_uc010kkd.3_5'UTR|PARK2_uc003qtx.4_Silent_p.F45F|PARK2_uc021zhs.1_Silent_p.F45F|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.F45F|PARK2_uc003qtz.4_Silent_p.F45F|PARK2_uc021zhv.1_5'UTR|PARK2_uc021zhw.1_5'UTR|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.F45F|PARK2_uc010kke.1_Silent_p.F45F	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	45			A -> V (in PARK2).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCTTCCCTGCGAAAATCACAC	0.592000														36			34		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6189052	6189052	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:6189052C>T	uc001amb.2	-	22	3576	c.3465G>A	c.(3463-3465)gaG>gaA	p.E1155E	CHD5_uc001alz.2_Silent_p.E12E|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1155	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGATGCGCTCCTCCACCGAGG	0.657000														21			38		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20848538	20848538	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:20848538T>C	uc001vxe.3	-	33	4899	c.4859A>G	c.(4858-4860)tAc>tGc	p.Y1620C	TEP1_uc010ahk.3_Missense_Mutation_p.Y963C|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.Y1512C|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1620					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGCCGGGGGTACTGGCTGAG	0.602000														27			64		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227125	38227125	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:38227125G>A	uc009vvi.3	-	2	888	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	EPHA10_uc001cbw.4_Missense_Mutation_p.R268C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	268						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.G267G(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGCTGCAGCGGCCCACAGGC	0.692000														123			19		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152469461	152469461	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:152469461G>A	uc021zhb.1	-	134	24918	c.24695C>T	c.(24694-24696)tCt>tTt	p.S8232F	SYNE1_uc003qos.4_Missense_Mutation_p.S2756F|SYNE1_uc003qot.4_Missense_Mutation_p.S8161F|SYNE1_uc003qou.4_Missense_Mutation_p.S8232F|SYNE1_uc011eez.2_Missense_Mutation_p.S434F|SYNE1_uc003qoq.4_Missense_Mutation_p.S434F|SYNE1_uc003qor.4_Missense_Mutation_p.S1132F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8232					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGAGCTGCAGAGTCTTCCAG	0.597000										HNSCC(10;0.0054)				21			16		0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163306	84163306	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:84163306G>A	uc002fhk.2	-	4	925	c.741C>T	c.(739-741)atC>atT	p.I247I	HSDL1_uc010vnv.1_Silent_p.I192I	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA.	247						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CATAGAAAGGGATTAGACTCT	0.463000														63			13		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82323082	82323082	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:82323082G>A	uc004ald.3	+	12	1910	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	TLE4_uc004alc.3_Missense_Mutation_p.R329Q|TLE4_uc010mpr.3_Missense_Mutation_p.R208Q|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.R297Q|TLE4_uc010mps.3_Missense_Mutation_p.R253Q|TLE4_uc004alf.3_Missense_Mutation_p.R268Q	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCTACTCCACGAACTGATGCG	0.438000														47			9		0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57842672	57842672	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:57842672C>T	uc003hck.3	-	0	1155	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	Homo sapiens nitric oxide associated 1 (NOA1), mRNA.	360							GTP binding										AGTAATCGGACTCCAGGAGCG	0.602000														20			21		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134885485	134885485	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:134885485G>A	uc001llw.3	+	1	244	c.244G>A	c.(244-246)Gag>Aag	p.E82K				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGCCGAGGGCGAGCCCTCATG	0.642000														3			8		0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766188	27766188	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:27766188G>A	uc011mjy.2	+	0	1263	c.1176G>A	c.(1174-1176)agG>agA	p.R392R		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGTTTGTAAGGATTTATGACC	0.373000														6			14		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919555	48919555	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:48919555C>T	uc010slu.2	+	0	141	c.141C>T	c.(139-141)ctC>ctT	p.L47L		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGCTGCTGCTCATGATCAGGG	0.498000														42			44		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814378	156814378	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:156814378C>T	uc010pht.2	-	13	2912	c.2613G>A	c.(2611-2613)gcG>gcA	p.A871A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	871	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCCAAACTTCGCATATCGAA	0.597000														36			19		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108155142	108155142	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:108155142G>A	uc001pkb.1	+	25	4320	c.3935G>A	c.(3934-3936)aGa>aAa	p.R1312K	ATM_uc009yxr.1_Missense_Mutation_p.R1312K|ATM_uc001pkd.4_5'Flank|ATM_uc001pke.2_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1312					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.V1292_Q1331del(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCACAGCAAAGAGAGACTGCT	0.373000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				15			19		0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26448586	26448586	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:26448586G>C	uc003nhz.3	+	5	1069	c.826G>C	c.(826-828)Gaa>Caa	p.E276Q	BTN3A3_uc011dkn.2_Missense_Mutation_p.E234Q|BTN3A3_uc021ynh.1_Intron	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	276						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ACAACAGAAGGAAAAAATTGC	0.532000														67			7		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169300899	169300899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:169300899G>A	uc021xuh.1	-	29	4309	c.4199C>T	c.(4198-4200)tCc>tTc	p.S1400F	DDX60L_uc003irq.4_Missense_Mutation_p.S1400F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1400							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAGCTGCAAGGAAAACAAAAA	0.368000														17			5		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15536418	15536418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:15536418G>A	uc002nbc.3	-	4	1788	c.1765C>T	c.(1765-1767)Ctc>Ttc	p.L589F	WIZ_uc002nba.4_Missense_Mutation_p.L456F|WIZ_uc002nbb.4_Missense_Mutation_p.L415F	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1272						nucleus	zinc ion binding	p.R588R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TTCTTCTTGAGGATCTCTCGC	0.657000														18			14		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573265	140573265	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:140573265G>A	uc003lix.3	+	0	1314	c.1140G>A	c.(1138-1140)aaG>aaA	p.K380K		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	380	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGGAAAGATGGTTTGCT	0.413000														20			3		0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172944869	172944869	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:172944869G>A	uc002uhk.3	+	8	937	c.864G>A	c.(862-864)acG>acA	p.T288T	METAP1D_uc010zdw.2_Silent_p.T170T	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	288					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CAATCATCACGGAGGGATCCC	0.393000														22			53		0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58024787	58024787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:58024787G>A	uc001spg.1	-	3	898	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	B4GALNT1_uc010sru.2_Missense_Mutation_p.P101S|B4GALNT1_uc010srv.2_Missense_Mutation_p.P156S|B4GALNT1_uc001spi.3_Missense_Mutation_p.P156S	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	156					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTCCTGAGGGGCTGAACTTCC	0.632000														19			15		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66423333	66423333	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:66423333G>A	uc002eom.4	+	4	845	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	CDH5_uc002eon.1_Missense_Mutation_p.R230Q	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	230	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GTGGAAGCGCGAGATGCCCAG	0.562000														34			27		0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987492	15987492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:15987492G>A	uc010obn.2	+	0	1129	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	DDI2_uc001awx.2_3'UTR|RSC1A1_uc009voj.2_Missense_Mutation_p.E377K	NM_006511	NP_006502	Q92681	RSCA1_HUMAN	Homo sapiens regulatory solute carrier protein, family 1, member 1 (RSC1A1), mRNA.	377					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	Golgi apparatus|cell junction|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TACATCTGAAGAAGTAATCTG	0.408000														75			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263981	140263981	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:140263981C>T	uc003lif.2	+	0	2128	c.2128C>T	c.(2128-2130)Ctg>Ttg	p.L710L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.L710L|PCDHAC2_uc003lid.3_Silent_p.L710L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	718					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)			GGTGTCCAGCCTGTTGGTGCT	0.647000														27			70		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110948	55110948	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:55110948C>T	uc010rie.2	+	0	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCGCTATTTCCTTGTCAGCT	0.438000														54			75		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806647	54806647	+	Missense_Mutation	SNP	C	T	T	rs145623856		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:54806647C>T	uc003pck.3	+	4	2994	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	960								p.R960C(2)|p.N959H(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAGTATAAATCGCCCAGAAAT	0.413000														39			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585078	82585078	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:82585078G>A	uc003uhx.2	-	4	5480	c.5191C>T	c.(5191-5193)Cct>Tct	p.P1731S	PCLO_uc003uhv.2_Missense_Mutation_p.P1731S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1662					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P1731T(3)|p.P1662T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGATGTAGGGGATGTACCA	0.498000														54			46		0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77759609	77759609	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:77759609C>T	uc001dhn.3	+	2	716	c.379C>T	c.(379-381)Cct>Tct	p.P127S	AK5_uc001dho.3_Missense_Mutation_p.P101S|AK5_uc001dhm.2_Missense_Mutation_p.P103S	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	127					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GGTTTTTGATCCTACCAGACC	0.413000														16			46		0	0	1	0	0
ANKRD10	55608	broad.mit.edu	37	13	111532020	111532020	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:111532020G>A	uc001vrn.3	-	5	1362	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	ANKRD10_uc001vrm.3_Silent_p.A146A|ANKRD10_uc001vrl.3_Non-coding_Transcript	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	Homo sapiens ankyrin repeat domain 10 (ANKRD10), mRNA.	409										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			TGCCCAGCACGGCACTGTCGT	0.587000														17			10		0	0	1	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														26			5		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477864	31477864	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:31477864C>T	uc010vfn.2	+	7	2871	c.2747C>T	c.(2746-2748)cCc>cTc	p.P916L	ARMC5_uc010vfo.2_Missense_Mutation_p.P853L|ARMC5_uc002ecc.3_Missense_Mutation_p.P821L|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Missense_Mutation_p.P629L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	821							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGCCCGTGCCCCCACCAGGC	0.692000														23			14		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251568	25251568	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:25251568G>A	uc002dod.4	-	6	2880	c.2473C>T	c.(2473-2475)Cac>Tac	p.H825Y	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.H621Y	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	825					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTCCTGTGTGGATTCTCTGG	0.443000														51			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641543	179641543	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:179641543C>T	uc021vsy.1	-	27	5273	c.5048G>A	c.(5047-5049)cGa>cAa	p.R1683Q	TTN_uc021vsz.1_Missense_Mutation_p.R1637Q|TTN_uc021vta.1_Missense_Mutation_p.R1637Q|TTN_uc021vtb.1_Missense_Mutation_p.R1637Q|TTN_uc002unb.2_Missense_Mutation_p.R1683Q|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1683							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCCATATCGCAAATGGAG	0.458000														45			11		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113660422	113660422	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:113660422G>A	uc001pof.1	+	0		c.470G>A								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		ACCTGTGTGAGAAAGACCTGA	0.567000														7			8		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566232	136566232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:136566232C>T	uc002tuu.1	-	7	3696	c.3685G>A	c.(3685-3687)Gac>Aac	p.D1229N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1229	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCTCCTGGTCGTCTTCGTAG	0.592000														124			23		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167489074	167489074	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:167489074C>T	uc010jjd.3	+	6	1319	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L	ODZ2_uc003lzq.2_Missense_Mutation_p.S319L|ODZ2_uc003lzr.4_Missense_Mutation_p.S208L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTGCCCTGGTCGTTGAAAAAC	0.408000														6			12		0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586815	1586815	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:1586815G>A	uc003skv.4	-	8	1332	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S	TMEM184A_uc003skt.4_Missense_Mutation_p.P318S|TMEM184A_uc021zyr.1_Missense_Mutation_p.P144S	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	339						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGTGCCGGGGGGGCTGGGGGA	0.667000														8			16		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813663	88813663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:88813663G>A	uc010iko.1	+	1	607	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		ACAAGACAAGGAAATTAGTga	0.413000														9			20		0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633303	116633303	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:116633303G>A	uc001ppn.3	-	3	1036	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Silent_p.S334S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	334										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCCAAAATGGGATTTTGCTT	0.448000														32			43		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992914	28992914	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:28992914G>A	uc002kwr.2	+	14	2671	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	DSG4_uc002kwq.2_Missense_Mutation_p.D827N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	827					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GATTGTGGATGACTTAGATGA	0.453000														55			43		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983188	140983188	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:140983188C>T	uc011mwp.2	+	4	1043	c.1043C>T	c.(1042-1044)cCt>cTt	p.P348L	MAGEC3_uc004fbs.3_5'UTR|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	348	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCCAATCCTCAAGGTAAG	0.577000														15			44		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				7			29		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	978050	978050	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:978050C>T	uc021qss.1	+	8	3801	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F	WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Missense_Mutation_p.S1138F|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Missense_Mutation_p.S352F	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	808					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCAGTGATTCCTCACAAATC	0.488000														48			66		0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54530431	54530431	+	Splice_Site	SNP	C	T	T	rs55902142		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:54530431C>T	uc001jjt.3	-	2	369	c.304_splice	c.e2+1	p.D102_splice		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	102					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGTCCTTACCCGGACTTTTTC	0.562000														17			59		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224599	2224599	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:2224599G>A	uc009zdu.1	+	1	572	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	CACNA1C_uc001qkc.2_Missense_Mutation_p.G87R|CACNA1C_uc001qjz.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkd.2_Missense_Mutation_p.G87R|CACNA1C_uc001qke.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkf.2_Missense_Mutation_p.G87R|CACNA1C_uc009zdw.1_Missense_Mutation_p.G87R|CACNA1C_uc001qkg.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkh.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkl.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkj.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkk.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkn.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkm.2_Missense_Mutation_p.G87R|CACNA1C_uc001qko.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkp.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkq.2_Missense_Mutation_p.G87R|CACNA1C_uc001qku.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkr.2_Missense_Mutation_p.G87R|CACNA1C_uc001qks.2_Missense_Mutation_p.G87R|CACNA1C_uc001qkt.2_Missense_Mutation_p.G87R|CACNA1C_uc009zdv.1_Missense_Mutation_p.G87R|CACNA1C_uc001qkb.2_Missense_Mutation_p.G87R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	87					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.G87W(3)|p.G117W(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCAGCAATATGGGAAACCCAA	0.662000														27			13		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118659	165118659	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:165118659C>T	uc011cjk.2	-	0	205	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	69										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ACTCTTAGTTCAAGCTTTCTC	0.408000														73			23		0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144826626	144826626	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:144826626G>A	uc003ijj.3	-	0	91	c.35C>T	c.(34-36)tCa>tTa	p.S12L	GYPE_uc003ijk.4_Missense_Mutation_p.S12L	NM_198682	NP_941391	P15421	GLPE_HUMAN	Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA.	12						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					TCACTTACCTGACAATAGTAA	0.323000														20			5		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124765416	124765416	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:124765416G>A	uc001qbg.3	-	5	1113	c.973C>T	c.(973-975)Cca>Tca	p.P325S	ROBO4_uc010sas.2_Missense_Mutation_p.P180S|ROBO4_uc001qbh.2_Missense_Mutation_p.P215S|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	325	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCAGAGGATGGTCTCACTTTG	0.632000														60			20		0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641350	55641350	+	Missense_Mutation	SNP	C	A	A	rs144439510		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:55641350C>A	uc010spg.2	+	0	279	c.279C>A	c.(277-279)aaC>aaA	p.N93K		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTCTTACAACGATTGTGCAG	0.413000														128			41		5.44703e-19	5.53029e-19	1	1	0
NLRP9	338321	broad.mit.edu	37	19	56223859	56223859	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:56223859C>T	uc002qly.3	-	6	2627	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	867						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTCCTATTTCATTATGCCCA	0.448000														31			13		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117138749	117138749	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:117138749G>A	uc004biq.3	-	1	1473	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	AKNA_uc004bio.3_5'UTR|AKNA_uc004bip.3_Silent_p.L365L|AKNA_uc004bir.3_Silent_p.L446L|AKNA_uc004bis.3_Silent_p.L446L|AKNA_uc010mve.2_Silent_p.L327L|AKNA_uc004biu.1_Silent_p.L187L|AKNA_uc004biv.1_Silent_p.L446L|AKNA_uc004biw.1_Silent_p.L446L	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L446L(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CACTAACCTGGAGCTGATGGA	0.602000														36			8		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824478	54824478	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:54824478C>T	uc002xxb.2	+	0	691	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	230					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGTGCCTCATCACCATGTTCT	0.577000														53			92		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45665628	45665628	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:45665628G>A	uc001wwd.4	+	20	5693	c.5594G>A	c.(5593-5595)aGg>aAg	p.R1865K	FANCM_uc010anf.3_Missense_Mutation_p.R1839K|FANCM_uc001wwe.4_Missense_Mutation_p.R1401K|FANCM_uc010ang.3_Missense_Mutation_p.R1114K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1865	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding	p.R1865M(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTGGTGGAAAGGAGGTCTCAA	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					37			54		0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31230802	31230802	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:31230802G>A	uc002ebn.2	+	3	963	c.679G>A	c.(679-681)Gag>Aag	p.E227K	PYDC1_uc002ebo.3_5'Flank|PYDC1_uc021tgv.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	227					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAAGGTCCTGGAGGAGGTGGC	0.667000														33			20		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033817	110033817	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:110033817C>T	uc001dxr.3	+	9	1647	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	ATXN7L2_uc001dxs.3_Silent_p.S171S|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	544										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATCCCCGTCCTTCAGCAAGC	0.652000														55			15		0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762974	138762974	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:138762974G>A	uc011bmt.1	-	0	761	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	163										breast(2)|lung(7)|skin(2)	11						AGAGCTCCGGGAACTCAGAGT	0.657000														9			6		0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098627	92098627	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:92098627C>T	uc022ahe.1	-	0	1069	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	357					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						cgttccatgtccccatttagt	0.473000														63			22		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	984698	984698	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:984698C>T	uc001ack.2	+	24	4431	c.4381C>T	c.(4381-4383)Cgg>Tgg	p.R1461W		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1461	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGAGCTGTCCCGGCACTGGCG	0.687000														30			10		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675553	183675553	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:183675553C>T	uc003ivd.1	+	20	4108	c.4033C>T	c.(4033-4035)Ccc>Tcc	p.P1345S	ODZ3_uc003ive.1_Missense_Mutation_p.P758S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1345					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCTGGAATGGCCCACTGACCT	0.393000														5			4		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20229954	20229954	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:20229954C>T	uc002nor.2	+	3	1730	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	531						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TAAGATAATTCATACTGGAGC	0.413000														15			13		0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15098931	15098931	+	Silent	SNP	C	T	T	rs145827382	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:15098931C>T	uc001mlx.1	+	3	397	c.324C>T	c.(322-324)ttC>ttT	p.F108F	CALCB_uc009ygr.1_Silent_p.F108F	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	108					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	p.F108F(2)		endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						AGAGCAACTTCGTGCCCACCA	0.577000														23			10		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107938070	107938070	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:107938070C>T	uc022ccg.1	+	50	4942	c.4740C>T	c.(4738-4740)atC>atT	p.I1580I	COL4A5_uc004enz.1_Silent_p.I1574I	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1574	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.T1580T(1)|p.T1580M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTGTGGTGATCGCAGTTCACA	0.453000									Alport syndrome with Diffuse Leiomyomatosis					3			36		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955471	18955471	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:18955471C>T	uc001mpg.3	-	0	1079	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	287					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAACCAGCTTCAGGTTCTGCC	0.527000														96			9		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111296379	111296379	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:111296379C>T	uc003dxw.3	+	3	744	c.574C>T	c.(574-576)Ctt>Ttt	p.L192F	CD96_uc003dxv.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	192	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTGGGTCCTTCTTTCTAAGGG	0.403000									Opitz Trigonocephaly syndrome					58			50		0	0	1	0	0
GPR137C	283554	broad.mit.edu	37	14	53066870	53066870	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:53066870C>T	uc001wzt.4	+	2	528	c.528C>T	c.(526-528)ctC>ctT	p.L176L	GPR137C_uc001wzu.4_Silent_p.L176L	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA.	176						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					CAAGCCTGCTCTTTTTAGTGG	0.333000														36			41		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128186467	128186467	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:128186467G>A	uc002tol.3	+	8	1421	c.1394G>A	c.(1393-1395)tGg>tAg	p.W465*	PROC_uc002tok.3_Nonsense_Mutation_p.W444*|PROC_uc010yzi.2_Nonsense_Mutation_p.W500*|PROC_uc010yzj.2_Nonsense_Mutation_p.W339*|PROC_uc010yzk.2_Nonsense_Mutation_p.W499*	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	444					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TACCTCGACTGGATCCATGGG	0.612000														155			30		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963876	73963876	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:73963876C>T	uc004eby.3	-	2	1133	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	172					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTCATAATCCCTATTTAGAT	0.453000														5			30		0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2834330	2834330	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:2834330C>T	uc002lwm.2	+	4	1295	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I	ZNF554_uc002lwl.2_Missense_Mutation_p.T315I	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S365F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGCTCCACCCTCACGCGC	0.552000														39			11		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532584	50532585	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:50532584_50532585CC>TT	uc021pqb.1	+	0	1994_1995	c.1994_1995CC>TT	c.(1993-1995)acc>aTT	p.T665I	C10orf71_uc021pqa.1_Missense_Mutation_p.T664I|C10orf71_uc021pqc.1_Missense_Mutation_p.T665I	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	665										endometrium(1)	1						AAAATGAAGACCCACCAGCTAG	0.530000														4			20		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77941982	77941982	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:77941982C>T	uc001xtz.3	-	6	1746	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Missense_Mutation_p.E470K	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	558	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TACTCCTCCTCCAGGGGGTTG	0.642000														50			80		0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206695	116206695	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:116206695C>T	uc001efv.1	+	3	889	c.618C>T	c.(616-618)gtC>gtT	p.V206V	VANGL1_uc009wgy.1_Silent_p.V204V|VANGL1_uc021ose.1_Silent_p.V206V	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	206					multicellular organismal development	integral to membrane	protein binding	p.G205W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTTACGGGGTCCGCATTTTGG	0.517000														166			27		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52601629	52601629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:52601629C>T	uc001jjj.3	-	4	546	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	A1CF_uc010qho.2_Missense_Mutation_p.E128K|A1CF_uc010qhn.2_Missense_Mutation_p.E128K|A1CF_uc009xov.3_Missense_Mutation_p.E120K|A1CF_uc001jji.3_Missense_Mutation_p.E120K|A1CF_uc001jjh.3_Missense_Mutation_p.E128K|A1CF_uc001jjk.1_Missense_Mutation_p.E120K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	120	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TACCTAATTTCATAATTATTA	0.318000														3			27		0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300279	21300279	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:21300279C>T	uc002npo.4	+	4	1187	c.809C>T	c.(808-810)gCc>gTc	p.A270V	ZNF714_uc002npl.3_Missense_Mutation_p.A116V|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CACCCTTCAGCCCTTACTACA	0.358000														19			4		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37264482	37264482	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:37264482C>T	uc002hrg.2	-	4	698	c.486G>A	c.(484-486)ggG>ggA	p.G162G	LOC100131347_uc002hrf.1_3'UTR|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	162					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGATCACGTCCCCCATGAAGA	0.572000														87			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13914635	13914635	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:13914635C>T	uc003jfd.2	-	9	1356	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	438	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTACCTGTTTCAGTTTAATCG	0.313000									Kartagener syndrome					6			44		0	0	1	0	0
ROCK1P1	727758	broad.mit.edu	37	18	118365	118365	+	RNA	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:118365T>C	uc002kke.3	+	3		c.799T>C								Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA.																		ACAAAAAAAATGGGTAACTCA	0.363000														20			11		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231102934	231102934	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:231102934C>T	uc002vql.3	+	2	359	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Nonsense_Mutation_p.Q82*|SP140_uc002vqk.2_Nonsense_Mutation_p.Q82*|SP140_uc002vqn.3_Nonsense_Mutation_p.Q82*|SP140_uc002vqm.3_Nonsense_Mutation_p.Q82*|SP140_uc010fxl.3_Nonsense_Mutation_p.Q82*	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	82	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAAGCATTTTCAAGAAGCTTT	0.358000														62			7		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156879667	156879667	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:156879667C>T	uc001fqj.1	+	11	1652	c.1536C>T	c.(1534-1536)acC>acT	p.T512T	PEAR1_uc001fqk.1_Silent_p.T137T	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	512	EGF-like 6.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTACCTGCACCCCTGGGTGGC	0.677000														88			13		0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77928548	77928548	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:77928548C>T	uc001xtw.3	+	2	477	c.317C>T	c.(316-318)cCc>cTc	p.P106L	AHSA1_uc010tvk.1_Missense_Mutation_p.P106L	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.	106					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTGGAGATCCCCAATTTGTCT	0.428000														20			23		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120150	103120150	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:103120150C>T	uc002tbz.4	+	2	1421	c.964C>T	c.(964-966)Ctc>Ttc	p.L322F		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	322					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AACCCTCTATCTCTCCGGCAT	0.428000														65			21		0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95396730	95396730	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:95396730A>G	uc004asl.1	-	10	1385	c.1108T>C	c.(1108-1110)Tac>Cac	p.Y370H	IPPK_uc004ask.1_Missense_Mutation_p.Y69H	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	370					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AGCTTCTGGTAAAATGCTTCA	0.453000											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			9		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56495343	56495343	+	Missense_Mutation	SNP	C	T	T	rs67708249		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:56495343C>T	uc001sjh.3	+	27	3809	c.3533C>T	c.(3532-3534)tCt>tTt	p.S1178F	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Missense_Mutation_p.S535F|ERBB3_uc010sqc.2_Missense_Mutation_p.S1119F|ERBB3_uc009zok.3_Missense_Mutation_p.S443F|ERBB3_uc001sjk.3_Missense_Mutation_p.S419F|ERBB3_uc001sjl.3_Missense_Mutation_p.S298F|PA2G4_uc001sjm.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	1178					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGCACCCTTTCTTCAGTGGGT	0.488000														44			11		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321411	52321411	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:52321411G>A	uc003xqu.4	-	16	2874	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	925					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGGCCAAGGAAAGCCTGTC	0.627000														22			10		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41446972	41446972	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:41446972C>T	uc002yyq.1	-	26	5332	c.4880G>A	c.(4879-4881)aGg>aAg	p.R1627K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1627					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACCTCGCAGCCTCTTTAGCCT	0.602000														15			4		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112228368	112228368	+	Splice_Site	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:112228368T>C	uc001tst.3	+	6	777	c.681_splice	c.e6+2	p.E227_splice	ALDH2_uc010syi.2_Splice_Site_p.E180_splice	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ATCAAGGAGGTGCGTGGCTTA	0.542000			T	HMGA2	leiomyoma									15			18		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89941887	89941887	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:89941887G>A	uc003kju.3	+	15	3097	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1001					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGAAGAAATGATGACCCCAT	0.343000														3			5		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97159016	97159016	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:97159016T>A	uc021rcc.1	+	26	3654	c.3576T>A	c.(3574-3576)caT>caA	p.H1192Q				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1192										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GATGTCTACATATTATGCAAA	0.323000														15			17		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41049521	41049521	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:41049521G>A	uc003jmj.4	-	13	1852	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	HEATR7B2_uc003jmi.4_Silent_p.I9I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	454							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAAAAGTCAGGATCCTTGGCC	0.453000														2			20		0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135911265	135911265	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:135911265C>T	uc010fnf.3	+	18	2151	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.S703L|RAB3GAP1_uc010fng.3_Missense_Mutation_p.S528L|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	703						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGGTGGTATTCACCCCGGGAT	0.418000														65			23		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6479031	6479031	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:6479031G>A	uc002mfe.3	-	4	305	c.213C>T	c.(211-213)ttC>ttT	p.F71F	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Silent_p.F27F	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	71	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CTGTGAGGGCGAAGGTGAAAT	0.642000														63			20		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767491	143767491	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:143767491C>T	uc001ejt.3	-	0	391	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	120	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TCCAACCACTCAGTCTTGGCA	0.488000														270			89		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619145	48619145	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:48619145C>T	uc003ctz.2	-	47	4717	c.4716G>A	c.(4714-4716)ggG>ggA	p.G1572G	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1572	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G1572W(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTACCCGTTCCCCTTGGACTC	0.582000														108			25		0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42997984	42997984	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:42997984C>T	uc011apq.2	-	2	679	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	POLDIP3_uc011app.2_Missense_Mutation_p.A98T|POLDIP3_uc011apr.2_Intron|POLDIP3_uc003bcu.3_Missense_Mutation_p.A177T|POLDIP3_uc003bcv.3_Intron|POLDIP3_uc010gza.3_Non-coding_Transcript	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	177					positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						ACCTGTTTGGCCTGGTGGTTA	0.493000														48			39		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74592081	74592081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:74592081C>T	uc002lmi.3	+	7	1189	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Nonsense_Mutation_p.Q331*	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	331					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CACACTTTTTCAGACGTTACC	0.448000														48			31		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142832372	142832372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:142832372G>A	uc003wcf.1	+	1	217	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	61						extracellular region	actin binding	p.E61*(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AGTTCAAACAGAATTGAAAGA	0.378000														18			8		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536552	37536552	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:37536552G>A	uc002xje.3	+	8	1191	c.1002G>A	c.(1000-1002)cgG>cgA	p.R334R	PPP1R16B_uc010ggc.3_Silent_p.R292R	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	334					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCTTGAGCCGGAGGACCTCCA	0.602000														53			23		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100568703	100568703	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:100568703C>T	uc003yiv.3	+	30	4957	c.4846C>T	c.(4846-4848)Cga>Tga	p.R1616*	VPS13B_uc003yiw.3_Nonsense_Mutation_p.R1591*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1616					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGAATTCTTCGAGATCCTGG	0.358000														20			11		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100118164	100118164	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:100118164C>T	uc004egj.3	-	3	527	c.321G>A	c.(319-321)atG>atA	p.M107I	NOX1_uc004egl.4_Missense_Mutation_p.M107I|NOX1_uc010nne.3_Missense_Mutation_p.M70I	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	107	Ferric oxidoreductase.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTAGGCAGATCATATAGGCCA	0.438000														10			72		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18265917	18265917	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:18265917G>A	uc004cyl.2	-	11	1699	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.L514L|SCML2_uc011miz.1_Silent_p.L448L|SCML2_uc010nfc.2_Silent_p.L250L	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	514					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTGTTTTGGGGAGCTTAGGAG	0.423000														8			18		0	0	1	0	0
COQ9	57017	broad.mit.edu	37	16	57492195	57492195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:57492195C>T	uc002elq.3	+	5	725	c.644C>T	c.(643-645)tCc>tTc	p.S215F	COQ9_uc002els.3_Missense_Mutation_p.S8F	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	215					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						AACATCCCGTCCAGCCTGAGC	0.572000														7			6		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24406673	24406673	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:24406673C>T	uc001bin.4	-	19	2582	c.2419G>A	c.(2419-2421)Gat>Aat	p.D807N	MYOM3_uc001bim.4_Missense_Mutation_p.D464N|MYOM3_uc001bio.3_Missense_Mutation_p.D807N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	807	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCCCGTACATCGTACGGGGGG	0.602000														81			11		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120175767	120175767	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:120175767C>T	uc021qrk.1	+	6	513	c.479C>T	c.(478-480)tCc>tTc	p.S160F	POU2F3_uc001pxc.3_Missense_Mutation_p.S158F|POU2F3_uc010rzk.2_Missense_Mutation_p.S112F|POU2F3_uc010rzl.2_Missense_Mutation_p.S88F|POU2F3_uc001pxe.1_5'Flank	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	158					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTGCCAGGATCCTCTTTAGAA	0.512000														24			23		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130929789	130929789	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:130929789C>T	uc001uil.2	-	6	772	c.556G>A	c.(556-558)Gag>Aag	p.E186K	RIMBP2_uc001uim.3_Missense_Mutation_p.E94K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	186	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGGGGTTCTCGTTCGGTCCA	0.542000														32			18		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107080822	107080822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:107080822G>A	uc001tlt.3	+	5	705	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.E180K|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.E189K|RFX4_uc001tlv.3_Missense_Mutation_p.E86K|LOC100505978_uc001tlu.3_5'Flank	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	180					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTGCTGCCAGAATTTCCCAA	0.502000														85			40		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107624034	107624034	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:107624034A>G	uc004bcl.3	-	5	873	c.469T>C	c.(469-471)Ttc>Ctc	p.F157L	ABCA1_uc004bcm.3_Missense_Mutation_p.F97L	NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	157					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGATACAGGAACCCAGAGAAG	0.398000														20			35		0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129152780	129152780	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:129152780G>A	uc003emh.1	-	4	1500	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W	MBD4_uc003emi.1_Missense_Mutation_p.R442W|MBD4_uc003emj.1_Missense_Mutation_p.R436W|MBD4_uc003emk.1_Missense_Mutation_p.R124W|MBD4_uc011bkw.1_Missense_Mutation_p.R442W	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	442					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	p.R442Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						AAAGGTGACCGAGGAGGTGTC	0.403000								Base excision repair (BER), DNA glycosylases						33			30		0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840443	153840443	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:153840443C>T	uc021xgc.1	+	1	946	c.662C>T	c.(661-663)cCc>cTc	p.P221L	ARHGEF26-AS1_uc003ezu.1_5'Flank|ARHGEF26_uc011bog.1_Missense_Mutation_p.P221L|ARHGEF26_uc011boh.1_Missense_Mutation_p.P221L	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	221					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CAAAGGCTGCCCTCCCAGGAG	0.587000														15			18		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220777414	220777414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:220777414G>A	uc009xdw.3	+	5	1027	c.430G>A	c.(430-432)Gta>Ata	p.V144I	MARK1_uc001hmn.4_Missense_Mutation_p.V144I|MARK1_uc010pun.2_Missense_Mutation_p.V144I|MARK1_uc001hmm.4_Missense_Mutation_p.V122I	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	144	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTCAGGTGAAGTATTTGATTA	0.328000														13			43		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219295453	219295453	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:219295453C>T	uc002vib.3	+	8	976	c.954C>T	c.(952-954)ttC>ttT	p.F318F	VIL1_uc010zke.2_Silent_p.F7F|VIL1_uc002via.3_Silent_p.F318F|VIL1_uc002vic.1_Silent_p.F318F	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	318	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGAACTTCATCAAAGCCA	0.547000														20			45		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43771950	43771950	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:43771950G>A	uc002owd.4	-	1	515	c.416C>T	c.(415-417)aCc>aTc	p.T139I	PSG9_uc002owe.4_Missense_Mutation_p.T139I|PSG9_uc010xwm.2_Missense_Mutation_p.T139I|PSG9_uc002owf.4_Missense_Mutation_p.T139I|PSG9_uc002owg.2_Missense_Mutation_p.T139I	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	139	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TAAGGTGAAGGTGAAATGTCG	0.488000														96			35		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3029915	3029915	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:3029915G>A	uc002fvc.1	-	0	931	c.931C>T	c.(931-933)Cat>Tat	p.H311Y		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TAAGGGGAATGAATTTTCCGA	0.423000														7			32		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977574	6977574	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:6977574C>T	uc001mey.3	+	6	1954	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.H218Y|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	456					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCCAACACTCCATTTTGGAAA	0.398000														20			20		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3214386	3214386	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:3214386C>T	uc021xkv.1	+	48	6869	c.6724C>T	c.(6724-6726)Cct>Tct	p.P2242S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2242					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTGCACCTTCCTCCTGAGAA	0.587000														76			26		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100392956	100392956	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:100392956C>T	uc003uwj.3	+	45	8426	c.8261C>T	c.(8260-8262)cCa>cTa	p.P2754L	ZAN_uc003uwk.3_Missense_Mutation_p.P2663L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.P703L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2755	VWFC 5.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCAGAAAGCCAGGTGAGGGC	0.532000														11			5		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29274876	29274876	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:29274876G>A	uc010ezl.3	+	19	3328	c.2977G>A	c.(2977-2979)Gga>Aga	p.G993R	FAM179A_uc010ymm.2_Missense_Mutation_p.G938R|FAM179A_uc002rmr.4_Missense_Mutation_p.G520R	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	993							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGTCCTTGGGAGGCAGCCG	0.582000														14			12		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56228099	56228100	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:56228099_56228100CC>TT	uc002xyq.3	-	2	700_701	c.307_308GG>AA	c.(307-309)gga>AAa	p.G103K	PMEPA1_uc002xyr.3_Missense_Mutation_p.G53K|PMEPA1_uc002xys.3_Missense_Mutation_p.G68K|PMEPA1_uc002xyt.3_Missense_Mutation_p.G53K	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	103					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CTCTGGGATTCCGTTGCCTGAC	0.634000														8			4		0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50854977	50854977	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:50854977C>T	uc001rwp.2	+	10	1383	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	LARP4_uc001rwq.2_Missense_Mutation_p.S323F|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Missense_Mutation_p.S393F|LARP4_uc001rwr.2_Intron|LARP4_uc021qxv.1_Missense_Mutation_p.S324F|LARP4_uc009zlr.1_Missense_Mutation_p.S213F|LARP4_uc001rwm.3_Missense_Mutation_p.S394F|LARP4_uc001rwn.3_Missense_Mutation_p.S324F	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	394							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GGCTCTGTATCCTTGGGGGAT	0.438000														72			28		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447746	63447746	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:63447746G>A	uc001xfx.3	-	5	837	c.786C>T	c.(784-786)atC>atT	p.I262I	KCNH5_uc001xfy.3_Silent_p.I262I|KCNH5_uc001xfz.1_Silent_p.I204I|KCNH5_uc001xga.3_Silent_p.I204I	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	262					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AATTTAAAACGATGTCAACCA	0.423000														36			12		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048720	175048720	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:175048720G>A	uc001gkl.1	+	2	774	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	TNN_uc010pmx.1_Missense_Mutation_p.E221K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	221	EGF-like 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCAGTGCCACGAAGACTTCAT	0.677000														2			11		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101782	81101782	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:81101782G>A	uc001szf.2	+	0	375	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	95					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ACTGACCGGCGAAAAGCCGCC	0.632000														42			20		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549279	58549280	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:58549279_58549280CC>TT	uc002qrc.1	+	2	322_323	c.75_76CC>TT	c.(73-78)gaccct>gaTTct	p.P26S	ZSCAN1_uc002qra.1_Missense_Mutation_p.P26S|ZSCAN1_uc002qrb.1_Missense_Mutation_p.P26S	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	26					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGACGCAGACCCTGGGCCAGC	0.698000														7			4		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41158841	41158841	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:41158841G>A	uc003jmk.2	-	12	2113	c.1903C>T	c.(1903-1905)Ctt>Ttt	p.L635F	C6_uc003jml.1_Missense_Mutation_p.L635F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	635					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.L635H(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATCTCAGGAAGATCGACCTCT	0.398000														23			7		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33653534	33653534	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:33653534C>T	uc021ywr.1	+	40	5821	c.5597C>T	c.(5596-5598)tCc>tTc	p.S1866F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1866					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ATGGGCACATCCGTGCTCATC	0.637000														58			19		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206632056	206632056	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:206632056C>T	uc001hdy.3	+	18	2335	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S	SRGAP2_uc010pru.2_Silent_p.S777S	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	865	SH3.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CTGACTCCTCCTCCCCAGGGG	0.582000														22			5		0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96034537	96034537	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:96034537G>T	uc003poo.2	+	1	402	c.222G>T	c.(220-222)aaG>aaT	p.K74N	MANEA_uc003pon.3_Missense_Mutation_p.K74N	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	74	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CAAATACCAAGAATTTAAAAA	0.333000														44			12		0.00010058	0.000101048	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73461501	73461501	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:73461501G>A	uc004aid.3	-	3	713	c.469C>T	c.(469-471)Cga>Tga	p.R157*	TRPM3_uc004ahu.3_5'UTR|TRPM3_uc004ahv.3_5'UTR|TRPM3_uc004ahw.3_Nonsense_Mutation_p.R4*|TRPM3_uc004ahx.3_Nonsense_Mutation_p.R4*|TRPM3_uc004ahy.3_Nonsense_Mutation_p.R4*|TRPM3_uc004ahz.3_Nonsense_Mutation_p.R4*|TRPM3_uc004aia.3_Nonsense_Mutation_p.R4*|TRPM3_uc004aib.3_Nonsense_Mutation_p.R4*|TRPM3_uc004aic.3_Nonsense_Mutation_p.R157*|TRPM3_uc010mor.3_Nonsense_Mutation_p.R157*|TRPM3_uc004aie.3_Nonsense_Mutation_p.R4*|TRPM3_uc004aif.3_Nonsense_Mutation_p.R4*|TRPM3_uc004aig.3_Nonsense_Mutation_p.R4*|TRPM3_uc004aii.3_Nonsense_Mutation_p.R159*	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	157						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAAGATACTCGCACATACTGG	0.448000														28			3		0	0	1	0	0
BCKDHB	594	broad.mit.edu	37	6	80877513	80877513	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:80877513C>T	uc003pjd.2	+	3	529	c.462C>T	c.(460-462)ttC>ttT	p.F154F	BCKDHB_uc003pje.2_Silent_p.F154F	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	154					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTATATTTTCCCTGCATTTG	0.413000														20			6		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35835990	35835990	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:35835990G>A	uc010edt.3	+	10	2253	c.2169G>A	c.(2167-2169)gaG>gaA	p.E723E	CD22_uc010edu.3_Silent_p.E635E|CD22_uc010edv.3_Silent_p.E723E|CD22_uc002nzb.4_Silent_p.E546E|CD22_uc010xst.2_Silent_p.E551E|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	723					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GGCTTCAGGAGAATTCCAGCG	0.552000														46			27		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59886056	59886056	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:59886056C>T	uc002izk.2	-	6	996	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	230	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TAATGGTATTCGATGACTCTT	0.408000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						6			31		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133507359	133507359	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:133507359C>T	uc004bzr.1	+	14	1491	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	461					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCGGGTGCTTCCCAAACATGG	0.587000														51			16		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924669	105924669	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:105924669C>T	uc002tcq.3	-	1	174	c.90G>A	c.(88-90)gtG>gtA	p.V30V	TGFBRAP1_uc002tcr.4_Silent_p.V30V	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	30	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGCAGCACTCCACGCACTCTA	0.592000														12			21		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38786918	38786918	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:38786918C>T	uc001zke.4	-	15	2102	c.1924G>A	c.(1924-1926)Ggt>Agt	p.G642S	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Intron|RASGRP1_uc010bbg.3_Intron|RASGRP1_uc001zkd.4_Missense_Mutation_p.G607S	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	642					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CTCTCCTCACCATGTTCCACA	0.517000														2			12		0	0	1	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543705	217543705	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:217543705G>A	uc002vgj.4	-	1	1209	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_000599	NP_000590	P24593	IBP5_HUMAN	Homo sapiens insulin-like growth factor binding protein 5 (IGFBP5), mRNA.	145					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCAGCTCGGAGATGCGGG	0.602000														34			66		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121358779	121358779	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:121358779C>T	uc001pxx.3	+	3	696	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	189					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCTCTGGATCACGTTTGACT	0.517000														229			90		0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1272654	1272655	+	Missense_Mutation	DNP	CC	TT	TT	rs117769620	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:1272654_1272655CC>TT	uc002ckw.2	-	3	510_511	c.508_509GG>AA	c.(508-510)gga>AAa	p.G170K		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	170	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				CTCCTCACCTCCCTCCCGCGTA	0.668000														101			78		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180017711	180017711	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:180017711C>T	uc001gnt.3	+	21	5046	c.4663C>T	c.(4663-4665)Cca>Tca	p.P1555S	CEP350_uc009wxl.2_Missense_Mutation_p.P1554S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1555	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCCTTCAGTTCCATCTTGTAA	0.373000														12			31		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795611	42795611	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:42795611C>T	uc002otf.1	+	9	2731	c.2691C>T	c.(2689-2691)ccC>ccT	p.P897P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	897	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGCCCCACCCCCCAAAGGTG	0.617000			"""Mis, F, S"""		oligodendroglioma									55			48		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890814	205890814	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:205890814G>A	uc001hdp.3	-	16	2049	c.1935C>T	c.(1933-1935)gcC>gcT	p.A645A	SLC26A9_uc001hdo.3_Silent_p.A313A|SLC26A9_uc001hdq.3_Silent_p.A645A	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	645	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCTCGCCGGGGGCCTCAGCGG	0.627000														2			12		0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060846	12060846	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:12060846G>A	uc010xme.2	+	4	2252	c.2061G>A	c.(2059-2061)aaG>aaA	p.K687K	ZNF700_uc002msu.3_Silent_p.K669K|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	669					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATGAAAGGAAGCACAGAGGAG	0.393000														8			19		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41285929	41285929	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:41285929C>T	uc001cgh.2	+	6	1120	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	KCNQ4_uc001cgi.2_Silent_p.I346I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	346					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCAACCTCATCCAGGTACAAG	0.622000														2			16		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383763	31383763	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:31383763C>T	uc002ebt.3	+	17	2292	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	ITGAX_uc002ebu.1_Missense_Mutation_p.P742L	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	742					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTGGGCAAGCCCCTCCTTGCC	0.642000														58			40		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180162	124180162	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:124180162G>A	uc010sag.2	-	0	501	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATTTGCAAAAGGACAGTTTCA	0.463000														14			11		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835887	247835887	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:247835887A>C	uc001idi.1	-	0	457	c.457T>G	c.(457-459)Tcc>Gcc	p.S153A		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGCACCCAGGAATTGGTGACT	0.468000														65			14		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97102502	97102502	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:97102502G>A	uc021rcc.1	+	14	1998	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	640										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GTGTGGCTGCGACAATAAATT	0.338000														35			12		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132496054	132496054	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:132496054C>T	uc001ujn.3	+	15	3468	c.3316C>T	c.(3316-3318)Ccc>Tcc	p.P1106S	EP400_uc021rgq.1_Missense_Mutation_p.P1105S|EP400_uc001ujm.3_Missense_Mutation_p.P1106S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1142	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TAATTGGGGCCCCCATCTTGT	0.453000														33			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106494450	106494450	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:106494450G>A	uc021ser.1	-	2337		c.41202C>T								Parts of antibodies, mostly variable regions.																		AGACCCCTGTGGAGAAAGCAT	0.527000														13			22		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274119	10274119	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:10274119T>C	uc010uym.2	-	2	460	c.150A>G	c.(148-150)gaA>gaG	p.E50E	GRIN2A_uc002czo.4_Silent_p.E50E|GRIN2A_uc002czr.4_Silent_p.E50E|GRIN2A_uc010buk.3_Silent_p.E50E	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	50					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E50K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGTTCGAAGTTCGCGCTCTG	0.677000														85			36		0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2737140	2737140	+	Missense_Mutation	SNP	C	T	T	rs35127617		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:2737140C>T	uc010xgy.1	-	1	370	c.116G>A	c.(115-117)cGc>cAc	p.R39H	SLC39A3_uc002lwg.3_Missense_Mutation_p.R39H|SLC39A3_uc002lwh.3_Missense_Mutation_p.R39H|SLC39A3_uc021umu.1_Missense_Mutation_p.R39H	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	39						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTTTCGAGCGATGGGCCTT	0.552000														25			5		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079014	57079014	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:57079014G>A	uc003xsq.4	-	2	1742	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S	PLAG1_uc003xsr.4_Missense_Mutation_p.P431S|PLAG1_uc010lyi.3_Missense_Mutation_p.P431S|PLAG1_uc010lyj.3_Missense_Mutation_p.P349S|PLAG1_uc022aur.1_Missense_Mutation_p.P349S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	431	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P431L(1)|p.P431H(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GGATTATAGGGAGGACCATTT	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									46			28		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942717	144942717	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:144942717C>T	uc003zaa.1	-	0	4718	c.4705G>A	c.(4705-4707)Gga>Aga	p.G1569R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1569						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGTTGCCTCCCTCCAGGGAC	0.642000														14			4		0	0	1	0	0
LGALS13	29124	broad.mit.edu	37	19	40095307	40095307	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:40095307C>T	uc002omb.3	+	1	121	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	27	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GGACACCAATCCACTCTTTTA	0.463000														34			37		0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6905007	6905007	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:6905007G>A	uc002gdx.4	+	7	1091	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Non-coding_Transcript	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	346	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAAAGTCCTGGGTCCGAAATT	0.577000														16			140		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324322	158324322	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:158324322G>A	uc001fse.3	+	1	507	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	CD1E_uc010pid.2_Missense_Mutation_p.G70S|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.G72S|CD1E_uc001fsf.3_Missense_Mutation_p.G72S|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Missense_Mutation_p.G72S|CD1E_uc001fsk.3_Missense_Mutation_p.G72S|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.G72S|CD1E_uc001frz.3_Missense_Mutation_p.G72S|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	72					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACTGTCTTGGGCACCATCCG	0.517000														22			60		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884422	52884422	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:52884422C>T	uc001sam.3	-	4	1217	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	336	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCCTTGACCTCAGCGATGA	0.577000														103			27		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327492	57327492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:57327492G>A	uc002qnu.2	-	6	2669	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S744L|PEG3_uc002qnv.2_Missense_Mutation_p.S773L|PEG3_uc002qnw.2_Missense_Mutation_p.S649L|PEG3_uc002qnx.2_Missense_Mutation_p.S647L|PEG3_uc010etr.2_Missense_Mutation_p.S773L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	773					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCTCATATGATTTTGCCTC	0.438000														112			46		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767840	57767840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:57767840G>A	uc002yan.3	+	0	1766	c.1766G>A	c.(1765-1767)aGa>aAa	p.R589K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	589						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACGCAAAGAGAACTGCTGCG	0.682000														51			9		0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50436081	50436081	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:50436081C>T	uc010enq.2	+	3	1163	c.581C>T	c.(580-582)cCt>cTt	p.P194L	ATF5_uc002prd.3_Missense_Mutation_p.P194L|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	194	Interaction with PTP4A1 (By similarity).|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCACCTCAACCTTCTCGCCTG	0.657000														6			3		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107724	55107724	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:55107724C>T	uc002qgh.1	+	6	1211	c.1029C>T	c.(1027-1029)acC>acT	p.T343T	LILRA1_uc010yfg.1_Silent_p.T341T|LILRA1_uc010yfh.2_Silent_p.T343T	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	343	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.V342V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGAACGTGACCCTGCTGTGTC	0.592000														29			21		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47589126	47589126	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:47589126C>T	uc003gxk.1	+	21	4008	c.3844C>T	c.(3844-3846)Cca>Tca	p.P1282S	ATP10D_uc003gxl.1_Missense_Mutation_p.P530S	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1282					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1282Q(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AACTTGCAACCCACCATCCAA	0.433000														42			40		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139160798	139160798	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:139160798C>T	uc003yuy.3	-	13	3584	c.3413G>A	c.(3412-3414)gGa>gAa	p.G1138E	FAM135B_uc003yux.3_Missense_Mutation_p.G1039E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G700E|FAM135B_uc003yvb.3_Nonsense_Mutation_p.W665*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1138										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGTGAATTCCATCTTCCAA	0.363000										HNSCC(54;0.14)				50			20		0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43852618	43852618	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:43852618G>A	uc001cje.1	-	3	370	c.322C>T	c.(322-324)Cat>Tat	p.H108Y	SZT2_uc001cjk.2_5'Flank|MED8_uc001cjg.4_Missense_Mutation_p.H108Y|MED8_uc001cjf.4_Missense_Mutation_p.H19Y|SZT2_uc001cjh.3_5'Flank|SZT2_uc001cji.1_5'Flank|SZT2_uc009vws.1_5'Flank	NM_052877	NP_443109	Q96G25	MED8_HUMAN	Homo sapiens mediator complex subunit 8 (MED8), transcript variant 3, mRNA.	108					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTCTCAGATGGTCAGGGACT	0.517000														41			117		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113512	59113512	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:59113512C>T	uc001xdw.3	+	3	2335	c.2171C>T	c.(2170-2172)tCc>tTc	p.S724F	DACT1_uc010trv.2_Missense_Mutation_p.S443F|DACT1_uc001xdx.3_Missense_Mutation_p.S687F|DACT1_uc010trw.2_Missense_Mutation_p.S443F	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	724					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCTAGCGACTCCGAGTACTCG	0.667000														79			17		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41497264	41497264	+	Silent	SNP	C	T	T	rs150742423	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:41497264C>T	uc002opr.1	+	0	61	c.54C>T	c.(52-54)ctC>ctT	p.L18L	CYP2A7_uc002opo.3_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	18					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TCTTGCTACTCCTGGTTCAGC	0.612000														114			143		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228506837	228506837	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:228506837C>T	uc009xez.1	+	53	14428	c.14384C>T	c.(14383-14385)aCt>aTt	p.T4795I	OBSCN_uc001hsn.3_Missense_Mutation_p.T4795I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4795					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCCCGCACTGGAGATGCT	0.652000														6			19		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703402	4703402	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:4703402G>A	uc001lzk.2	-	1	784	c.540C>T	c.(538-540)caC>caT	p.H180H	OR51E2_uc021qcr.1_Silent_p.H180H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTACATCCTGGTGGACACAAT	0.517000														32			30		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52950199	52950199	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:52950199G>A	uc003dgf.3	-	14	2070	c.1447C>T	c.(1447-1449)Ctg>Ttg	p.L483L	SFMBT1_uc010hmr.3_Silent_p.L430L|SFMBT1_uc003dgg.3_Silent_p.L483L|SFMBT1_uc003dgh.3_Silent_p.L483L	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	483					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGATTCCTCAGGCCCTCGTGG	0.398000														32			7		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265864	45265864	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:45265864C>T	uc001myq.2	-	5	1146	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L	SYT13_uc009yku.1_Silent_p.L196L	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	340	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCTTCTTCTTCAGCTTCCGAG	0.532000														12			18		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152210	45152210	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:45152210A>T	uc003com.3	-	3	914	c.779T>A	c.(778-780)cTg>cAg	p.L260Q	CDCP1_uc003con.3_Missense_Mutation_p.L260Q	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	260						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCTGGCCCGCAGGTGTGCAGG	0.572000														100			34		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597719	36597719	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:36597719C>T	uc021qgb.1	+	0	2865	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Silent_p.S955S	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	955					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGATGGCTCCATTGGGGCAT	0.443000									Familial Hemophagocytic Lymphohistiocytosis					31			11		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3226873	3226873	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:3226873G>A	uc022aqr.1	-	18	3192	c.2802C>T	c.(2800-2802)atC>atT	p.I934I	CSMD1_uc011kwj.2_Silent_p.I327I|CSMD1_uc003wqe.3_Silent_p.I91I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	935	CUB 6.					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)		TCTTCCCTTGGATGTAGCCTC	0.403000														6			3		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892535	17892535	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:17892535C>T	uc002nhg.3	+	22	2122	c.1843C>T	c.(1843-1845)Ccg>Tcg	p.P615S	FCHO1_uc010ebb.2_Missense_Mutation_p.P615S|FCHO1_uc002nhh.2_Missense_Mutation_p.P615S|FCHO1_uc010xpw.1_Missense_Mutation_p.P565S	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	615										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTCCCGGGGTCCGAGCCCTGT	0.632000														57			52		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108479241	108479241	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:108479241G>A	uc010ywk.2	+	15	2391	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	770					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGTTCTTTGCGAAATGCGGAT	0.383000														18			23		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884680	36884680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:36884680G>A	uc002ody.1	-	4	797	c.562C>T	c.(562-564)Cat>Tat	p.H188Y		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTCTGTGATGAAAAGTAAGC	0.428000														35			13		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947735	95947735	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:95947735G>A	uc002suk.3	+	12	1747	c.1614G>A	c.(1612-1614)agG>agA	p.R538R	PROM2_uc002suh.2_Silent_p.R538R|PROM2_uc002sui.3_Silent_p.R538R|PROM2_uc002suj.3_Silent_p.R192R|PROM2_uc002sul.3_Silent_p.R64R|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	538						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TTGGCCTGAGGAAGAACATCA	0.617000														65			12		0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95575786	95575786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:95575786C>T	uc003hti.3	+	9	1610	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F	PDLIM5_uc011cdx.1_Missense_Mutation_p.L384F|PDLIM5_uc003htj.3_Missense_Mutation_p.L162F|PDLIM5_uc003htk.3_Missense_Mutation_p.L516F|PDLIM5_uc011cdy.2_Missense_Mutation_p.L365F|PDLIM5_uc003hth.3_Missense_Mutation_p.L378F|PDLIM5_uc003htl.3_Missense_Mutation_p.L162F	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	487	LIM zinc-binding 2.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAGGAAGATCCTTGGAGTAAG	0.353000														19			35		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49776048	49776048	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:49776048C>T	uc001vcm.3	+	23	3405	c.3100C>T	c.(3100-3102)Ctc>Ttc	p.L1034F	FNDC3A_uc001vcn.3_Missense_Mutation_p.L1034F|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.L978F	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	1034	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGAAGGTCCCCTCTCCCAAGA	0.348000														22			15		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922202	159922202	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:159922202G>A	uc001fus.3	-	2	631	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W	SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	172	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTATCCCCCCGGGAGAGCCAG	0.577000														120			82		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149519047	149519047	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:149519047C>T	uc010lpk.3	+	89	12842	c.12842C>T	c.(12841-12843)gCc>gTc	p.A4281V	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Non-coding_Transcript|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4284	TSP type-1 20.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGGCCGCAGCCCCTCACCAC	0.706000														7			4		0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52245537	52245537	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:52245537C>T	uc011bec.2	+	9	1940	c.1620C>T	c.(1618-1620)gtC>gtT	p.V540V	ALAS1_uc003dcy.2_Silent_p.V523V|ALAS1_uc003dcz.2_Silent_p.V523V	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	523					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCCCTGTTGTCCACTGCCCCA	0.582000														39			18		0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159752	62159752	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:62159752C>T	uc001nte.4	+	6	1207	c.923C>T	c.(922-924)cCc>cTc	p.P308L	ASRGL1_uc001ntf.4_Missense_Mutation_p.P308L|ASRGL1_uc001ntg.4_Missense_Mutation_p.P180L|ASRGL1_uc021qkl.1_5'Flank	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	308					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	ACCGACCTTCCCTAAGCCGCT	0.493000														24			9		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073359	17073359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:17073359C>T	uc002zlp.1	-	0	342	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	28					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.E28G(1)|p.E27G(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGCTCCTCCTCTTCTGGACTC	0.657000														47			31		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56184364	56184364	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:56184364G>A	uc002lhj.4	-	8	5930	c.5716C>T	c.(5716-5718)Cat>Tat	p.H1906Y		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1906	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAGCTGTCATGGAGGAAGTCT	0.527000														34			17		0	0	1	0	0
ROGDI	79641	broad.mit.edu	37	16	4851312	4851312	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:4851312C>T	uc002cxv.3	-	3	313	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	ROGDI_uc002cxu.3_5'UTR|ROGDI_uc002cxw.3_Intron	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	Homo sapiens rogdi homolog (Drosophila) (ROGDI), mRNA.	71						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						ACACCCTTCACCTGGTCTGTG	0.687000														14			14		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354371	40354371	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:40354371C>T	uc002omp.4	-	34	16106	c.16098G>A	c.(16096-16098)ggG>ggA	p.G5366G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5366	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGTTTCCCAGCATGGT	0.577000														21			5		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	941906	941906	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:941906C>T	uc003gbq.3	+	2	254	c.156C>T	c.(154-156)atC>atT	p.I52I	TMEM175_uc021xkf.1_Missense_Mutation_p.P127S|TMEM175_uc010ibl.1_Silent_p.I52I|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbs.3_5'UTR|TMEM175_uc003gbt.3_5'UTR|TMEM175_uc003gbr.3_5'UTR	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	52						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCCCTCAGATCCTGCCTGTGA	0.622000														49			19		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43436450	43436450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:43436450G>A	uc003tid.1	+	6	1198	c.593G>A	c.(592-594)gGa>gAa	p.G198E	HECW1_uc011kbi.1_Missense_Mutation_p.G198E|HECW1_uc003tie.1_Missense_Mutation_p.G230E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	198	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCGTCCAAGGACAAGGAAGT	0.418000														21			18		0	0	1	0	0
ZNF706	51123	broad.mit.edu	37	8	102212260	102212260	+	Silent	SNP	A	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:102212260A>T	uc003yka.3	-	3	616	c.201T>A	c.(199-201)ctT>ctA	p.L67L	ZNF706_uc003ykb.3_Silent_p.L67L	NM_001042510	NP_057180	Q9Y5V0	ZN706_HUMAN	Homo sapiens zinc finger protein 706 (ZNF706), transcript variant 1, mRNA.	67						intracellular	zinc ion binding			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			ATTCTGGAGGAAGTGGAGTCT	0.393000														44			40		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312493	48312493	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:48312493T>A	uc003toq.2	+	16	3254	c.3230T>A	c.(3229-3231)aTt>aAt	p.I1077N	ABCA13_uc010kyr.2_Missense_Mutation_p.I580N|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1077					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATTTTCGTATTTCTTTATTT	0.378000														4			9		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924275	34924275	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:34924275C>T	uc002yse.1	+	2	2787	c.2738C>T	c.(2737-2739)cCc>cTc	p.P913L	SON_uc002ysb.1_Missense_Mutation_p.P913L|SON_uc002ysc.3_Missense_Mutation_p.P913L|SON_uc002ysd.3_Intron|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.P559L|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	913	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.P913L(2)|p.P913S(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTCCTGATCCCTATAGGTTA	0.468000														12			8		0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135596255	135596255	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:135596255G>A	uc002ttz.3	+	0	70	c.3G>A	c.(1-3)atG>atA	p.M1I	ACMSD_uc002tua.3_5'UTR	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	1					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CTGTGGAGATGAAAATTGACA	0.348000														15			34		0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679735	219679735	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:219679735C>T	uc002viz.4	+	8	2012	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	526					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	p.Q525Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GCCTGCAGTTCCTGCAGAGAC	0.587000														36			19		0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104748150	104748150	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:104748150C>T	uc003vcm.3	+	21	3780	c.3246C>T	c.(3244-3246)tcC>tcT	p.S1082S	MLL5_uc010ljc.3_Silent_p.S1082S|MLL5_uc010lje.1_Non-coding_Transcript|MLL5_uc010ljf.1_Non-coding_Transcript|MLL5_uc010ljg.3_5'UTR|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1082					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CAGTGAACTCCAACTTGAGGG	0.512000														11			12		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117113183	117113183	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:117113183T>C	uc004biq.3	-	13	3312	c.3177A>G	c.(3175-3177)ccA>ccG	p.P1059P	AKNA_uc004bin.3_Silent_p.P306P|AKNA_uc004bio.3_Silent_p.P519P|AKNA_uc004bip.3_Silent_p.P978P|AKNA_uc004bir.3_Silent_p.P1059P|AKNA_uc004bis.3_Silent_p.P1059P|AKNA_uc010mve.2_Silent_p.P940P|AKNA_uc004bit.1_Non-coding_Transcript	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1059					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGGTCTCTGTTGGTCCACAGG	0.597000														29			48		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254782	24254782	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:24254782G>A	uc003xdz.2	+	6	661	c.441_splice	c.e6-1	p.R147_splice	ADAMDEC1_uc010lub.2_Splice_Site_p.R68_splice|ADAMDEC1_uc011lab.1_Splice_Site_p.R68_splice	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	147					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ATATCTCCCAGAGGATACTTC	0.418000														36			23		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811070	65811070	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:65811070G>A	uc001ogv.3	-	1	364	c.204C>T	c.(202-204)ttC>ttT	p.F68F	GAL3ST3_uc001ogw.3_Silent_p.F68F	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	68					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAGTCTTCAGGAAGGCCACAG	0.657000														14			9		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100842081	100842081	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:100842081G>A	uc003uyc.3	-	3	486	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	MOGAT3_uc010lhr.3_Missense_Mutation_p.R107W	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	107					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	p.D106Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					ACGTAGTTCCGATCCGGGGGC	0.592000														31			41		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128867287	128867287	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:128867287C>T	uc002tps.3	+	4	666	c.488C>T	c.(487-489)aCc>aTc	p.T163I	UGGT1_uc010fme.1_Missense_Mutation_p.T38I|UGGT1_uc002tpr.3_Missense_Mutation_p.T139I	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	163					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAATCTGATACCCTTGAGGCT	0.413000														22			45		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61029768	61029768	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:61029768C>T	uc010qif.1	-	6	826	c.760G>A	c.(760-762)Ggt>Agt	p.G254S	FAM13C_uc010qid.2_Missense_Mutation_p.G149S|FAM13C_uc001jkn.3_Missense_Mutation_p.G232S|FAM13C_uc001jko.3_Missense_Mutation_p.G232S|FAM13C_uc010qie.2_Missense_Mutation_p.G149S|FAM13C_uc001jkp.3_Missense_Mutation_p.G149S	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	232								p.P254P(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGTTATCACCATCAGTGATG	0.567000														7			27		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91707125	91707125	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:91707125T>C	uc003ulg.3	+	29	7106	c.6881T>C	c.(6880-6882)aTt>aCt	p.I2294T	AKAP9_uc003ulf.3_Missense_Mutation_p.I2286T|AKAP9_uc003uli.3_Missense_Mutation_p.I1917T|AKAP9_uc003ulj.3_Missense_Mutation_p.I64T	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2306	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGGTAGAAATTGACCAATTA	0.328000			T	BRAF	papillary thyroid									46			11		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922292	37922292	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:37922292G>A	uc002hsu.3	-	7	1343	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	IKZF3_uc002htd.3_Silent_p.L393L|IKZF3_uc010cwd.3_Silent_p.L284L|IKZF3_uc002hsv.3_Silent_p.L354L|IKZF3_uc010cwe.3_Silent_p.L293L|IKZF3_uc010cwf.3_Silent_p.L245L|IKZF3_uc010cwg.3_Silent_p.L206L|IKZF3_uc002hsw.3_Silent_p.L388L|IKZF3_uc002hsx.3_Silent_p.L371L|IKZF3_uc002hsy.3_Silent_p.L388L|IKZF3_uc002hsz.3_Silent_p.L332L|IKZF3_uc002hta.3_Silent_p.L349L|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Silent_p.L340L|IKZF3_uc002htc.3_Silent_p.L180L|IKZF3_uc010wel.2_Silent_p.L180L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	427					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGGCTTGAGGAGTTCGTAAG	0.552000														19			92		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1051561	1051561	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:1051561G>A	uc002lqw.4	+	20	3169	c.2938G>A	c.(2938-2940)Gag>Aag	p.E980K	ABCA7_uc010dsb.1_Missense_Mutation_p.E842K	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	980	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTATTTGGGAGCTGCTGCT	0.582000														12			18		0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389629	129389629	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:129389629G>A	uc021xdy.1	-	3	1489	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	TMCC1_uc003emy.4_Missense_Mutation_p.S28F|TMCC1_uc011blc.2_Missense_Mutation_p.S173F|TMCC1_uc010htg.3_Missense_Mutation_p.S238F	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	352						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGAGAAGCTGGAAAACCCACC	0.522000														34			23		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170763	167170763	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:167170763C>G	uc003fes.1	-	5	1026	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	SERPINI2_uc003fer.1_Missense_Mutation_p.E309Q|SERPINI2_uc003fet.1_Missense_Mutation_p.E309Q	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	309					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTAAATATCTCGGTTATGTTC	0.279000														13			9		0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22898640	22898640	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:22898640C>T	uc001irl.4	-	1	399	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	51	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TGGCTCAGTTCATTGATCTGG	0.358000														14			27		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46893894	46893894	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:46893894G>A	uc002zhi.3	+	3	1299	c.1278_splice	c.e3+1	p.G426_splice	COL18A1_uc002zhg.3_Splice_Site_p.G246_splice	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	661	FZ.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GACTCAGATGGGGTGAGTGAC	0.592000														3			6		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128367568	128367568	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:128367568C>T	uc002top.3	+	23	3222	c.3169C>T	c.(3169-3171)Cca>Tca	p.P1057S		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1057	MyTH4 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCCCAGGTTCCACAGCACAG	0.657000														5			9		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183660662	183660662	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:183660662G>A	uc003fmg.3	-	24	3712	c.3547C>T	c.(3547-3549)Ccc>Tcc	p.P1183S	ABCC5_uc011bqt.2_Missense_Mutation_p.P711S|ABCC5_uc010hxl.3_Missense_Mutation_p.P1140S	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1183						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCAGGGGAGGGAGCCTTGTTC	0.552000														41			12		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216499	20216499	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:20216499A>G	uc010tkt.2	+	0	913	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGAGGATAAAACCATGTGG	0.393000														68			32		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047456	73047456	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:73047456G>A	uc004ebn.2	+	0		c.35417G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TAAAACGAACGAGAAGGGGAA	0.398000														0			9		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995415	1995415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:1995415C>T	uc021qsx.1	-	7	1198	c.967G>A	c.(967-969)Gag>Aag	p.E323K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	323	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AAGTCATTCTCCCCCAGGGTG	0.478000														20			16		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362368	362368	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:362368C>T	uc002lol.3	-	7	1015	c.972G>A	c.(970-972)ctG>ctA	p.L324L	THEG_uc002lom.3_Silent_p.L300L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	324					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGACATCCAGCACCTCCC	0.617000														53			50		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21328366	21328366	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:21328366G>A	uc002ztj.2	+	4	588	c.370G>A	c.(370-372)Ggt>Agt	p.G124S	LZTR1_uc002ztk.2_Missense_Mutation_p.G124S|LZTR1_uc002ztl.2_Missense_Mutation_p.G130S|LZTR1_uc011ahx.1_Missense_Mutation_p.G112S	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCTGTCCCGTGGTCGGGTGCG	0.667000														20			12		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50547128	50547128	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:50547128G>A	uc003bjj.3	+	4	681	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	MOV10L1_uc003bjk.4_Missense_Mutation_p.E200K|MOV10L1_uc011arp.2_Missense_Mutation_p.E180K	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	200					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.E200*(2)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTGTTAGAGGAAAGCATCTT	0.567000														39			17		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226825421	226825421	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:226825421G>A	uc010pvo.2	-	6	2924	c.2584C>T	c.(2584-2586)Cga>Tga	p.R862*		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	862							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGAGTGGTTCGAATGGCCTTC	0.552000											OREG0014299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			10		0	0	1	0	0
FBXO44	93611	broad.mit.edu	37	1	11718796	11718796	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:11718796C>T	uc010oar.2	+	4	589	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	FBXO44_uc001ask.3_Missense_Mutation_p.R123C|FBXO44_uc010oas.2_Silent_p.F24F|FBXO44_uc001asm.3_Silent_p.F164F|FBXO44_uc001asl.3_Silent_p.F164F|FBXO44_uc001asn.3_Missense_Mutation_p.R123C	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding	p.R155Q(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGGTTCGCAGCCAGGC	0.706000														90			20		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618037	111618037	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:111618037G>A	uc004bdi.3	-	0	239	c.174C>T	c.(172-174)tcC>tcT	p.S58S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	58						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.G57D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGCAGTACTGGGAGCCCAGGT	0.657000														77			76		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121058703	121058703	+	Splice_Site	SNP	C	T	T	rs140608882	by1000genomes	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:121058703C>T	uc010rzo.2	+	20	6162	c.6162_splice	c.e20+1	p.I2054_splice		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2054	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTGTAAAATCGTAAGTGAGA	0.448000														36			19		0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092431	202092431	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:202092431C>T	uc001gxj.3	+	0	403	c.340C>T	c.(340-342)Cta>Tta	p.L114L		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	114						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						AGGGCAGAGGCTACAGATCCA	0.627000														68			10		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237233347	237233347	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:237233347T>A	uc002vwb.2	-	18	2511	c.2477A>T	c.(2476-2478)aAa>aTa	p.K826I	IQCA1_uc002vvz.1_Missense_Mutation_p.K818I|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.K777I	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	818							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ccttttccctttgtcctttgc	0.418000														8			7		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995832	140995832	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:140995832C>T	uc004fbt.3	+	3	2966	c.2642C>T	c.(2641-2643)tCc>tTc	p.S881F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S540F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	881							protein binding	p.S881P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TATACAAGTTCCTCAGACACC	0.493000										HNSCC(15;0.026)				9			101		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82124623	82124623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:82124623C>T	uc002fgv.3	+	3	953	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	261					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGCTTCCATCCAACCTGGAGG	0.498000														50			22		0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:45390482C>G	uc011dvx.2	+	2	421	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_uc011dvy.2_Missense_Mutation_p.Q71E|RUNX2_uc003oxt.3_Missense_Mutation_p.Q57E	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716000														21			3		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465536	24465536	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:24465536C>T	uc010tcw.2	-	2	914	c.894G>A	c.(892-894)ggG>ggA	p.G298G	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_5'UTR|C1QTNF9B-AS1_uc009zzx.3_5'UTR|C1QTNF9B_uc010tcv.1_3'UTR|C1QTNF9B_uc001uoz.1_3'UTR|C1QTNF9B_uc010tcx.2_Silent_p.G298G	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	298	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						ACATCTCATCCCCGAGCTTCA	0.512000														38			24		0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247419431	247419431	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:247419431C>G	uc010pyu.2	+	0	58	c.58C>G	c.(58-60)Ctc>Gtc	p.L20V		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	20					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CTCATTAGATCTCTTGCTTTT	0.303000														13			48		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16352730	16352730	+	Silent	SNP	C	T	T	rs115351575	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:16352730C>T	uc001axu.3	+	4	566	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.F119F|CLCNKA_uc001axv.3_Silent_p.F162F|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	162					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCACCCTGTTCCTGGGCAAAG	0.632000														29			68		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262022	241262022	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:241262022C>T	uc001hyv.2	-	2	449	c.119G>A	c.(118-120)gGa>gAa	p.G40E	RGS7_uc010pyh.2_Missense_Mutation_p.G14E|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.G40E|RGS7_uc009xgn.1_Missense_Mutation_p.G40E|RGS7_uc001hyw.2_Missense_Mutation_p.G40E	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	40	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATAGGAATTCCATTTTTTTC	0.348000														62			10		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990209	63990209	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:63990209G>A	uc003peh.3	-	3	1281	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	416					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CACCAAGTAAGGGTTTGCTGT	0.448000														77			26		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841743	100841743	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:100841743C>T	uc003pqj.4	-	9	1657	c.1190G>A	c.(1189-1191)aGa>aAa	p.R397K	SIM1_uc021zdg.1_Missense_Mutation_p.R397K|SIM1_uc010kcu.3_Missense_Mutation_p.R397K	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	397	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGATTCCGATCTTTCTGTGTG	0.502000														28			8		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864394	26864394	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:26864394G>A	uc010crm.3	+	8	2085	c.1887G>A	c.(1885-1887)acG>acA	p.T629T	FOXN1_uc002hbj.3_Silent_p.T629T	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	629					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CGCCCCCCACGGCCCCTGCAG	0.677000														4			42		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109475607	109475607	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:109475607C>T	uc010agk.2	+	8	1700	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	MYO16_uc001vqt.1_Missense_Mutation_p.P338S|MYO16_uc001vqu.1_Missense_Mutation_p.P138S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	338					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.P338T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCACGATCTTCCCGTACTGTC	0.433000														43			52		0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24089794	24089795	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:24089794_24089795CT>TA	uc004dbc.3	+	9	1153_1154	c.1132_1133CT>TA	c.(1132-1134)ctt>TAt	p.L378Y		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	378						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CTATTTCCTGCTTAGACGGCTT	0.436000														8			42		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50960188	50960188	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:50960188C>T	uc009xog.3	-	3	700	c.666G>A	c.(664-666)cgG>cgA	p.R222R	OGDHL_uc001jie.3_Silent_p.R195R|OGDHL_uc010qgt.2_Silent_p.R138R|OGDHL_uc010qgu.2_5'UTR|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	195					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCTCCAGGCGCCGAATGATCT	0.562000														8			36		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47570981	47570981	+	Missense_Mutation	SNP	G	A	A	rs147568390	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:47570981G>A	uc003gxk.1	+	15	3145	c.2981G>A	c.(2980-2982)cGa>cAa	p.R994Q	ATP10D_uc003gxl.1_Missense_Mutation_p.R242Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	994					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCAGGGTTACGAGCTGGACTC	0.483000														59			20		0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41533458	41533458	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:41533458G>A	uc002opo.3	-	0	711	c.170C>T	c.(169-171)tCc>tTc	p.S57F	CYP2A7_uc002ops.1_Non-coding_Transcript	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	57						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTTCATGATGGAGTCACATAT	0.582000														15			10		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38692515	38692515	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:38692515C>T	uc002ohk.3	+	19	5507	c.4998C>T	c.(4996-4998)gtC>gtT	p.V1666V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1666					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAAGAGCCGTCTCACTCTTCT	0.662000														17			35		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026613	153026613	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:153026613G>A	uc011dcy.2	+	2	403	c.376G>A	c.(376-378)Gat>Aat	p.D126N	GRIA1_uc003lva.4_Missense_Mutation_p.D116N|GRIA1_uc003luy.4_Missense_Mutation_p.D116N|GRIA1_uc003luz.4_Missense_Mutation_p.D21N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.D47N|GRIA1_uc011dcz.2_Missense_Mutation_p.D126N|GRIA1_uc010jia.1_Missense_Mutation_p.D96N	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	116					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R126C(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTTCCCGTTGATACATCCAA	0.478000														16			46		0	0	1	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368296	111368296	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:111368296C>T	uc003puq.3	-	0	462	c.327G>A	c.(325-327)ggG>ggA	p.G109G						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		ATAGCTGCTTCCCCAGAAACT	0.483000														15			20		0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68809847	68809847	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:68809847C>T	uc003jwu.3	+	3	1238	c.802C>T	c.(802-804)Cga>Tga	p.R268*	OCLN_uc003jwv.4_Nonsense_Mutation_p.R268*|OCLN_uc021xzq.1_Nonsense_Mutation_p.R17*|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Nonsense_Mutation_p.R17*|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	268	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGTGAAAACTCGAAGAAAGAT	0.398000														6			24		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26152311	26152311	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:26152311G>A	uc002rgu.2	-	6	2808	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.S715S	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	717	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCTGGAGGGGACACATCCA	0.507000														53			9		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183697	13183697	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:13183697T>C	uc010obg.2	-	1	419	c.176A>G	c.(175-177)aAg>aGg	p.K59R		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	59						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										ATTTTTCTCCTTATCATATTG	0.473000														23			70		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112876	234112876	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:234112876C>T	uc010zmo.2	+	24	3146	c.2993C>T	c.(2992-2994)tCc>tTc	p.S998F	INPP5D_uc010zmp.2_Missense_Mutation_p.S997F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1027	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCCTGAGTTCCTTCCCTAAG	0.632000														29			27		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257320	16257320	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:16257320C>T	uc001axk.1	+	10	4789	c.4585C>T	c.(4585-4587)Cgt>Tgt	p.R1529C	SPEN_uc010obp.1_Missense_Mutation_p.R1488C	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1529					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTTGCTTCTCGTTTTTTACA	0.383000														57			9		0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39267425	39267425	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:39267425G>A	uc003ooo.3	-	4	918	c.777C>T	c.(775-777)atC>atT	p.I259I	KCNK17_uc003oop.3_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	259						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGAGTTTGATGATCAAGGCCA	0.557000														110			18		0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39880154	39880154	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:39880154C>T	uc002old.3	-	4	500	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Missense_Mutation_p.E99K|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	109					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATCTCCTCTTCCAAAAGTTTC	0.587000														36			15		0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91007886	91007886	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:91007886G>A	uc001xyp.3	-	19	2480	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	TTC7B_uc001xyo.3_Silent_p.I230I|TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	786							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CGTCCCGGAGGATCTTCTCCG	0.632000														17			15		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294275	128294275	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:128294275G>A	uc003qbk.3	-	28	4525	c.4158C>T	c.(4156-4158)ttC>ttT	p.F1386F	PTPRK_uc010kfc.3_Silent_p.F1393F|PTPRK_uc003qbj.3_Silent_p.F1387F|PTPRK_uc011ebu.2_Silent_p.F1409F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1386	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTATAGCACAGAACATGCCAC	0.448000														54			16		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46318389	46318389	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:46318389G>A	uc002pdm.3	-	0	217	c.46C>T	c.(46-48)Ccg>Tcg	p.P16S		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	16						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTCCGGCCCGGAGGCTGCTGG	0.662000														11			14		0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56230311	56230311	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:56230311C>T	uc003hau.3	+	2	551	c.435C>T	c.(433-435)ttC>ttT	p.F145F	LOC100506462_uc003hav.1_Non-coding_Transcript	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA.	145					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.F145F(4)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GAAGACTCTTCGAGTGCCTCT	0.478000														65			21		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296798	29296798	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:29296798C>T	uc002rmt.2	-	0	330	c.330G>A	c.(328-330)atG>atA	p.M110I		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	110					response to stimulus|visual perception	photoreceptor outer segment		p.H109Q(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TATCCTTAGCCATGTGGCTTT	0.468000														31			88		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618407	156618407	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:156618407G>A	uc001fpp.3	+	5	1153	c.817G>A	c.(817-819)Gca>Aca	p.A273T	BCAN_uc001fpo.3_Missense_Mutation_p.A273T	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	273	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTGGAGGAAGCACGGGCGTA	0.612000														46			106		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21870592	21870592	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:21870592G>A	uc001war.2	-	17	3850	c.3785C>T	c.(3784-3786)tCc>tTc	p.S1262F	CHD8_uc001was.2_Missense_Mutation_p.S983F|CHD8_uc001wav.1_Missense_Mutation_p.S425F	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1262	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTCTCGTAGGAATTACGAGT	0.483000														34			8		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503144	45503144	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:45503144C>T	uc002zea.3	+	13	2368	c.2199C>T	c.(2197-2199)acC>acT	p.T733T	TRAPPC10_uc010gpo.3_Silent_p.T444T|TRAPPC10_uc011afa.2_Silent_p.T152T	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	733					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCCACGTGACCCTGGAACCAG	0.572000														60			43		0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131606686	131606686	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:131606686C>T	uc003kwo.3	+	3	483	c.406C>T	c.(406-408)Cca>Tca	p.P136S	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Missense_Mutation_p.P136S|PDLIM4_uc003kwp.3_Missense_Mutation_p.P136S	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	136							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTGGGATCTCCATATGGACA	0.632000														16			74		0	0	1	0	0
C6orf162	57150	broad.mit.edu	37	6	88049888	88049888	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:88049888A>T	uc003plp.1	+	3	279	c.190A>T	c.(190-192)Att>Ttt	p.I64F	C6orf162_uc021zck.1_Intron|C6orf162_uc003plq.1_Missense_Mutation_p.I64F	NM_001042493	NP_065158	Q96KF7	CF162_HUMAN	Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA.	64						integral to membrane				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		CGTGGCATATATTGGTTATCT	0.353000														35			6		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145038071	145038071	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:145038071C>T	uc003ijo.4	-	4	409	c.293G>A	c.(292-294)gGg>gAg	p.G98E	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.G65E|GYPA_uc003ijp.4_Missense_Mutation_p.G66E|GYPA_uc010ioq.3_Missense_Mutation_p.G85E|GYPA_uc010ior.3_Missense_Mutation_p.G33E|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	98					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AGCCATCACCCCAAAAATAAT	0.343000														36			24		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893779	36893779	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:36893779G>A	uc003cgj.3	-	12	4723	c.4475C>T	c.(4474-4476)tCt>tTt	p.S1492F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1492					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCGATCAAAAGATTCTGGGAA	0.438000														5			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262444	140262444	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:140262444G>A	uc003lif.2	+	0	591	c.591G>A	c.(589-591)agG>agA	p.R197R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.R197R|PCDHAC2_uc003lid.3_Silent_p.R197R	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	212	Cadherin 2.				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)			TTGTACTGAGGAAAACACTGG	0.443000														12			25		0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357545	46357545	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:46357545C>T	uc001vap.3	-	1	865	c.783G>A	c.(781-783)gaG>gaA	p.E261E		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	261					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGGGGAGGACCTCTGTCGCGG	0.602000														48			59		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8160928	8160928	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:8160928C>T	uc002mjf.3	-	43	5593	c.5576G>A	c.(5575-5577)gGg>gAg	p.G1859E		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1859	EGF-like 29; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTTGCAGGTCCCATTTCCACA	0.567000														24			32		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66088592	66088592	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:66088592G>A	uc001dci.3	+	18	2990	c.2601G>A	c.(2599-2601)atG>atA	p.M867I	LEPR_uc001dcg.3_Missense_Mutation_p.M867I|LEPR_uc001dch.3_Missense_Mutation_p.M867I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.M867I|LEPR_uc001dcj.3_Missense_Mutation_p.M867I|LEPR_uc001dck.3_Missense_Mutation_p.M867I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	867					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTTGTAGAATGAAAAAGCTAT	0.358000														46			8		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14814327	14814327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:14814327C>T	uc003byy.3	+	16	3112	c.2660C>T	c.(2659-2661)cCt>cTt	p.P887L	C3orf20_uc003byz.3_Missense_Mutation_p.P765L|C3orf20_uc003bza.3_Missense_Mutation_p.P765L|C3orf20_uc003bzb.1_3'UTR|C3orf20_uc011avj.2_Missense_Mutation_p.P214L	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	887						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAGCTACATCCTCTCAGCAGG	0.592000														15			5		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604719	90604719	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:90604719C>T	uc011eaa.2	+	0	532	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	178					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CCAATATATTCTCTATGGGTT	0.448000														41			46		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000148	219000148	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:219000148G>A	uc002vgz.2	+	3	834	c.624G>A	c.(622-624)cgG>cgA	p.R208R	CXCR2_uc002vha.2_Silent_p.R208R|CXCR2_uc002vhb.2_Silent_p.R208R|CXCR2_uc021vwp.1_Silent_p.R208R	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	208					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CAAACTGGCGGATGCTGTTAC	0.542000														108			21		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338373	72338373	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:72338373G>A	uc010lal.1	-	0		c.1283C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GGGCAGAAAGGAGAAGTGTGC	0.557000														47			18		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99463230	99463230	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:99463230G>A	uc002szf.1	-	1	328	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	12										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GCAGCCTCCCGAAGCTTAATG	0.512000														20			47		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154456717	154456717	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:154456717C>T	uc001ffb.3	-	5	1420	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	466	SH2.									breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTACCACTTCAGGGATGCTG	0.443000														39			4		0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4041149	4041149	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:4041149C>T	uc003mvv.3	+	3	1647	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	519						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGGAATCTTCGTCTGATGAT	0.358000														55			23		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43905575	43905575	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:43905575C>T	uc001cjk.2	+	49	6979	c.4369C>T	c.(4369-4371)Cga>Tga	p.R1457*		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2356						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCACGGCTTCGATTGGATGT	0.562000														60			13		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126776451	126776451	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:126776451G>A	uc003kuh.4	+	18	2616	c.2254G>A	c.(2254-2256)Gga>Aga	p.G752R	MEGF10_uc003kui.4_Missense_Mutation_p.G752R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	752	EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.G752*(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGGGTTTTATGGAAAAGATTG	0.512000														8			33		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166911171	166911171	+	Silent	SNP	G	A	A	rs116478064	by1000genomes	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:166911171G>A	uc002udo.4	-	5	806	c.579C>T	c.(577-579)ctC>ctT	p.L193L	SCN1A_uc010fpk.3_Silent_p.L193L|SCN1A_uc021vsb.1_Silent_p.L193L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	193						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L193L(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGTGAAATCGAGCCAGTTCC	0.343000														13			20		0	0	1	0	0
WHSC2	7469	broad.mit.edu	37	4	1985645	1985646	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:1985645_1985646GG>AA	uc003gem.3	-	8	1507_1508	c.1264_1265CC>TT	c.(1264-1266)ccg>TTg	p.P422L	WHSC2_uc003gek.3_Missense_Mutation_p.P148L|WHSC2_uc003gel.3_Missense_Mutation_p.P336L|WHSC2_uc003gen.3_Missense_Mutation_p.P276L	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	411					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			CATGGCAACCGGGGGTGTCTGA	0.683000														23			24		0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67301343	67301343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:67301343G>A	uc001dcx.3	-	10	1755	c.1699C>T	c.(1699-1701)Cgg>Tgg	p.R567W	WDR78_uc009waw.3_Missense_Mutation_p.R313W|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	567										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTGTTGCTCCGTACATTGTAA	0.373000														90			17		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170858197	170858197	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:170858197C>T	uc003fhh.2	-	12	1668	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	TNIK_uc003fhi.2_Silent_p.E441E|TNIK_uc003fhj.2_Silent_p.E441E|TNIK_uc003fhk.2_Silent_p.E441E|TNIK_uc003fhl.2_Silent_p.E441E|TNIK_uc003fhm.2_Silent_p.E441E|TNIK_uc003fhn.2_Silent_p.E441E|TNIK_uc003fho.2_Silent_p.E441E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	441	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCTGTTCATGCTCCGCACGCC	0.642000														90			38		0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136341422	136341422	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:136341422C>T	uc004cee.3	-	3	594	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	SLC2A6_uc004cef.3_Missense_Mutation_p.G167R|SLC2A6_uc004ceg.3_Missense_Mutation_p.G167R|SLC2A6_uc011mdj.1_Missense_Mutation_p.G167R	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	167						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CCCAGAGCCCCACGAACGCCT	0.622000														27			14		0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128690107	128690107	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:128690107G>A	uc003elj.4	-	7	1387	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	KIAA1257_uc003elg.1_Intron|AK125726_uc003elh.1_Intron|KIAA1257_uc003eli.4_Silent_p.S285S	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	397								p.S397P(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGAGCTGCTGGGAACAGGGCA	0.612000											OREG0015784	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			4		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373909	86373909	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:86373909G>A	uc010sum.2	-	5	826	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	MGAT4C_uc001tal.4_Missense_Mutation_p.R199C|MGAT4C_uc001taj.4_Missense_Mutation_p.R199C|MGAT4C_uc001tak.4_Missense_Mutation_p.R199C|MGAT4C_uc001tai.4_Missense_Mutation_p.R199C|MGAT4C_uc001tah.4_Missense_Mutation_p.R199C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTTGGAACGAAATTTGACT	0.338000														49			13		0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938786	132938786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:132938786C>T	uc003qdl.1	-	1	559	c.559G>A	c.(559-561)Gga>Aga	p.G187R	TAAR2_uc010kfr.1_Missense_Mutation_p.G142R	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	187						plasma membrane	G-protein coupled receptor activity	p.G187E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCCTCTATTCCATCTGCATAG	0.468000														19			26		0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11022696	11022696	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:11022696G>A	uc003sry.2	+	2	1262	c.810G>A	c.(808-810)aaG>aaA	p.K270K	PHF14_uc011jxi.2_Intron|PHF14_uc011jxj.2_Intron	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	270							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTTGCAAGAAGAAGAAGAGTA	0.448000														13			6		0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53769222	53769222	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:53769222A>C	uc003pcd.1	+	9	1473	c.952A>C	c.(952-954)Aat>Cat	p.N318H		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	318						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAGCAACTTGAATGCAGACAG	0.294000														14			26		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26918885	26918885	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:26918885G>A	uc002hbq.3	-	3	1360	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	423					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGATCTGGAGGCCGGCTGCA	0.542000														14			28		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195498576	195498576	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:195498576G>A	uc021xjp.1	-	4	13345	c.13189C>T	c.(13189-13191)Ccg>Tcg	p.P4397S	MUC4_uc003fuz.3_Silent_p.L76L|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.P138S|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.P138S|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.P161S|MUC4_uc003fvp.3_Missense_Mutation_p.P110S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1154					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCCAGAACGGAGCCACCAGG	0.587000														28			7		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13948115	13948115	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:13948115C>T	uc003wwq.3	-	7	1436	c.776G>A	c.(775-777)gGa>gAa	p.G259E	SGCZ_uc010lss.3_Missense_Mutation_p.G212E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	246	Poly-Ser.				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGGTAGATTTCCCAGCTTGAT	0.403000														35			24		0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147130318	147130318	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:147130318C>T	uc003ewe.3	+	1	1715	c.996C>T	c.(994-996)ttC>ttT	p.F332F		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	332					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F332C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGAAGCCCTTCAAGTGCGAGT	0.473000														37			11		0	0	1	0	0
HORMAD2	150280	broad.mit.edu	37	22	30494841	30494841	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:30494841G>A	uc003agy.3	+	3	117	c.52_splice	c.e3-1	p.E18_splice		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.	18					meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GTTTTTCCAGGAAACAGTTTT	0.338000														38			13		0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58485727	58485728	+	Missense_Mutation	DNP	GG	AA	AA	rs150585544		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:58485727_58485728GG>AA	uc002qqv.3	-	0	175_176	c.73_74CC>TT	c.(73-75)ccg>TTg	p.P25L		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	25						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATCTGCATACGGCAAGCATAAA	0.401000														25			39		0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224463674	224463674	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:224463674G>A	uc021vxk.1	-	0	327	c.327C>T	c.(325-327)gaC>gaT	p.D109D	SCG2_uc002vnm.3_Silent_p.D109D	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	109					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCTCATCCAGTCTTCTTCAC	0.438000														117			21		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081354	95081354	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:95081354C>T	uc001ydp.3	+	1	735	c.576C>T	c.(574-576)atC>atT	p.I192I	SERPINA3_uc001ydo.4_Silent_p.I217I|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.I192I|SERPINA3_uc001yds.3_Silent_p.I192I	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	192					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGGGGAAAATCACAGATCTGA	0.493000														61			23		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688924	26688924	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:26688924C>T	uc003acb.3	+	1	843	c.647C>T	c.(646-648)cCc>cTc	p.P216L	SEZ6L_uc003acd.3_Missense_Mutation_p.P216L|SEZ6L_uc011akd.2_Missense_Mutation_p.P216L|SEZ6L_uc003ace.3_Missense_Mutation_p.P216L|SEZ6L_uc011akc.2_Missense_Mutation_p.P216L|SEZ6L_uc003acc.3_Missense_Mutation_p.P216L|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	216						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACACACTCCCCCAGAGGCCA	0.647000														122			15		0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79120881	79120881	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:79120881G>A	uc001dip.4	+	3	801	c.677G>A	c.(676-678)gGg>gAg	p.G226E	IFI44_uc010orr.1_Missense_Mutation_p.G226E|IFI44_uc010ors.1_5'UTR	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	226					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATACAACTGGGATATCTGAG	0.428000														74			12		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045469	42045469	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:42045469G>A	uc001cgz.4	-	3	6213	c.5000C>T	c.(4999-5001)gCt>gTt	p.A1667V	HIVEP3_uc001cha.4_Missense_Mutation_p.A1667V|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1667					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGATGCGGAGCTGTGGCCAT	0.527000														28			63		0	0	1	0	0
VENTXP7	391518	broad.mit.edu	37	3	21447606	21447606	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:21447606G>A	uc003ccd.3	+	0		c.389G>A								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		TGGCCAGGGAGATGCAGCTCT	0.587000														3			4		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414335	26414335	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:26414335T>A	uc001isn.2	+	18	2272	c.1912T>A	c.(1912-1914)Ttg>Atg	p.L638M	MYO3A_uc009xko.1_Missense_Mutation_p.L638M|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	638	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGGTGCTTCTTTGCTTTGCAT	0.408000														4			22		0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241831026	241831026	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:241831026G>A	uc002wae.4	-	1	828	c.669C>T	c.(667-669)ttC>ttT	p.F223F	C2orf54_uc002wac.3_Silent_p.F55F|C2orf54_uc002wad.3_Silent_p.F74F	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	223										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TGCCCTCAGGGAATCCGGGCA	0.652000														85			23		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7774552	7774552	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:7774552G>A	uc011bwk.1	-	15	2521	c.2248C>T	c.(2248-2250)Cca>Tca	p.P750S	AFAP1_uc003gkg.1_Missense_Mutation_p.P666S|AFAP1-AS1_uc003gkd.4_Non-coding_Transcript	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	666						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CACACCTGTGGACTCGATGTC	0.662000														28			8		0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478805	141478805	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:141478805G>A	uc003vwq.1	+	0	517	c.517G>A	c.(517-519)Ggc>Agc	p.G173S		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	173					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TATCAGTGAGGGCATCTTGTC	0.423000														88			76		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29999175	29999175	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:29999175C>T	uc010bzm.2	+	14	3638	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Silent_p.I1081I|TAOK2_uc002dva.2_Silent_p.I1194I|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Silent_p.I1021I	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1194					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCACCCGAATCCCCCGGCTAC	0.711000														15			13		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228627	25228627	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:25228627G>A	uc002doc.3	+	1	203	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	41					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		ATGTCTGGTCGAACTGCTGGG	0.617000														146			100		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117129	20117129	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:20117129C>T	uc002noq.3	-	3	1305	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	ZNF682_uc002noo.3_Silent_p.E362E|ZNF682_uc002nop.3_Silent_p.E362E|ZNF682_uc010eck.3_Silent_p.E318E	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGTAGGGTTTCTCTCCAGTGT	0.378000														23			21		0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660801	100660801	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:100660801C>T	uc009ztv.1	-	0	57	c.54G>A	c.(52-54)ccG>ccA	p.P18P	SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Silent_p.P18P|DEPDC4_uc001thj.1_Silent_p.P18P|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	18					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TACGGAACCTCGGAGTCAAAA	0.627000														39			30		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23518287	23518287	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:23518287G>A	uc001wil.3	-	11	2169	c.1909C>T	c.(1909-1911)Ctc>Ttc	p.L637F	CDH24_uc010akf.3_Missense_Mutation_p.L599F	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	637					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCGGTGCTGAGCCCAGCAGCT	0.637000														23			4		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515242	56515242	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:56515242G>A	uc002qmj.3	+	1	223	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	NLRP5_uc002qmi.3_Missense_Mutation_p.E75K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	75	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTAGACAAGGAAGAATTTCA	0.433000														23			19		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645170	100645170	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:100645170C>T	uc003dun.3	-	1	341	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	ABI3BP_uc003duo.2_Missense_Mutation_p.G79R|ABI3BP_uc003dup.4_Missense_Mutation_p.G79R	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	86						extracellular space		p.G86R(3)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTGAATTTCCCTTCAGCGGGA	0.478000														24			12		0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44514978	44514978	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:44514978G>A	uc003bem.3	+	4	563	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PARVB_uc003ben.3_Missense_Mutation_p.E112K|PARVB_uc010gzn.3_Missense_Mutation_p.E60K|PARVB_uc003beo.3_Missense_Mutation_p.E75K	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	112	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.E145*(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GAAGCAGCTGGAGGAAGACCT	0.602000														50			35		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743680	147743680	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:147743680G>A	uc004fcp.3	+	2	911	c.432G>A	c.(430-432)ctG>ctA	p.L144L	AFF2_uc004fco.3_Silent_p.L140L|AFF2_uc004fcq.3_Silent_p.L140L|AFF2_uc004fcr.3_Silent_p.L140L|AFF2_uc011mxb.2_Silent_p.L144L|AFF2_uc004fcs.3_Silent_p.L140L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	144					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGATACTGAATTCAACTC	0.443000														21			163		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125233676	125233676	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:125233676G>A	uc003pzq.3	-	6		c.1058C>T								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		GTAATGCCAAGGGACTTACTG	0.423000			T	ETV6	B-ALL									9			6		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67064668	67064668	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:67064668G>A	uc003xvv.3	+	7	1268	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	TRIM55_uc003xvu.3_Missense_Mutation_p.E348K|TRIM55_uc003xvw.3_Missense_Mutation_p.E348K|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	348						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			aggagaaggagaagtgggagg	0.408000														13			9		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183245273	183245273	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:183245273C>T	uc003ivd.1	+	0	175	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	ODZ3_uc021xux.1_Missense_Mutation_p.R34W|ODZ3_uc010irv.1_Missense_Mutation_p.R34W	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	34	Teneurin N-terminal.				signal transduction	integral to membrane		p.R34W(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGAGGAGTGCCGGGTACCCAC	0.512000														31			5		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1168852	1168852	+	Missense_Mutation	SNP	G	A	A	rs145266598	by1000genomes	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:1168852G>A	uc002qwq.3	+	7	703	c.574G>A	c.(574-576)Gga>Aga	p.G192R	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	192					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.G192R(2)|p.N191K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCATCTGAACGGAAACTCCAG	0.443000														55			112		0	0	1	0	0
PIH1D1	55011	broad.mit.edu	37	19	49949662	49949662	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:49949662G>A	uc002pns.2	-	8	1134	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	BC128433_uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	Homo sapiens PIH1 domain containing 1 (PIH1D1), mRNA.	284					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGCAGAAGCGGCATGGCCACC	0.522000														30			3		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66085674	66085674	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:66085674G>A	uc001dci.3	+	16	2848	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	LEPR_uc001dcg.3_Missense_Mutation_p.G820E|LEPR_uc001dch.3_Missense_Mutation_p.G820E|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.G820E|LEPR_uc001dcj.3_Missense_Mutation_p.G820E|LEPR_uc001dck.3_Missense_Mutation_p.G820E	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	820	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAAGGAGTGGGAAAACCAAAG	0.318000														8			32		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156490	94156490	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:94156490C>T	uc001ybv.1	+	43	6848	c.6765C>T	c.(6763-6765)tcC>tcT	p.S2255S	UNC79_uc001ybs.1_Silent_p.S2233S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2410						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTGTGTCTCCCATATCCGAC	0.453000														26			44		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	71994	71994	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrGL000209.1:71994G>A	uc002qui.2	+	2	155	c.144G>A	c.(142-144)cgG>cgA	p.R48R	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Silent_p.R45R|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	48	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TGACTCTTCGGTGTCACTATC	0.532000														2			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585273	179585273	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:179585273C>T	uc021vsy.1	-	76	19709	c.19484G>A	c.(19483-19485)cGa>cAa	p.R6495Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3156Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7422	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTGCTTTCGATCTTTAAC	0.388000														22			8		0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50979171	50979171	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:50979171G>A	uc002psh.3	-	1	637	c.279C>T	c.(277-279)ccC>ccT	p.P93P	FAM71E1_uc002psg.3_Silent_p.P93P|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	93										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GGAGCCGTCTGGGACGGCCCG	0.612000														11			10		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6349713	6349713	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:6349713T>C	uc003gja.3	-	5	674	c.650A>G	c.(649-651)aAc>aGc	p.N217S	PPP2R2C_uc003gjb.3_Missense_Mutation_p.N200S|PPP2R2C_uc003gjc.3_Missense_Mutation_p.N217S|PPP2R2C_uc011bwd.2_Missense_Mutation_p.N210S|PPP2R2C_uc011bwe.2_Missense_Mutation_p.N210S|PPP2R2C_uc003gjd.1_Missense_Mutation_p.N305S	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	217					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTCCTCCATGTTGGCCGGCTT	0.612000														22			22		0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	25000665	25000665	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:25000665G>A	uc002wub.3	-	6	1307	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	ACSS1_uc002wuc.3_Silent_p.S409S|ACSS1_uc021wbm.1_Silent_p.S409S|ACSS1_uc010gdc.3_Intron|ACSS1_uc002wua.3_Silent_p.S326S|ACSS1_uc021wbl.1_Silent_p.S288S|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	409					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGTCCGCAGGGAGGAGCGAT	0.582000														120			37		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160007008	160007008	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:160007008C>T	uc002uag.3	+	6	897	c.623C>T	c.(622-624)cCc>cTc	p.P208L	TANC1_uc010fol.1_Intron|TANC1_uc010zcm.2_Missense_Mutation_p.P207L|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	208	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AACAAAAGTCCCTGTGAGACC	0.512000														42			5		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323747	31323748	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:31323747_31323748CC>TT	uc010dmg.1	+	11	3990_3991	c.3935_3936CC>TT	c.(3934-3936)tcc>tTT	p.S1312F	ASXL3_uc002kxq.2_Missense_Mutation_p.S1019F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1312	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACAGAGGGCTCCAGCATATCAA	0.441000														81			48		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909028	123909028	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:123909028G>A	uc001pzq.1	-	0	681	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R226Q(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGAGGTGCGGATCCGCAGGA	0.537000														56			17		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558525	129558525	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:129558525G>A	uc009zyl.1	-	8	3523	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	TMEM132D_uc001uia.2_Silent_p.I603I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1065						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACTCATCACGATGGAGTTCC	0.517000														32			34		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149678	18149678	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:18149678C>T	uc001bat.3	+	1	391	c.175C>T	c.(175-177)Cat>Tat	p.H59Y		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	59						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGACATTTGCCATCCTGACAC	0.577000														136			21		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514713	233514713	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:233514713T>A	uc001hvt.4	+	8	2222	c.1961T>A	c.(1960-1962)tTa>tAa	p.L654*	KIAA1804_uc001hvu.4_Nonsense_Mutation_p.L100*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	654					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CCTGATGGATTAGAACACAGA	0.378000														70			14		0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65637338	65637338	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:65637338G>A	uc001ofy.4	-	6	976	c.717C>T	c.(715-717)ttC>ttT	p.F239F	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	239	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACTGCAGGAGAAGCCATCCC	0.607000														39			38		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69265632	69265632	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:69265632G>A	uc001sup.3	-	3	424	c.363C>T	c.(361-363)atC>atT	p.I121I	CPM_uc001sur.3_Silent_p.I121I|CPM_uc001suq.3_Silent_p.I121I	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	121					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGGAAGGCATGATGTGTATCC	0.458000														51			20		0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66131732	66131733	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:66131732_66131733CC>TT	uc001oht.3	-	10	1451_1452	c.1222_1223GG>AA	c.(1222-1224)ggc>AAc	p.G408N	SLC29A2_uc009yrf.3_Missense_Mutation_p.G288N|SLC29A2_uc001ohu.3_Missense_Mutation_p.G408N|SLC29A2_uc001ohv.3_3'UTR	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	408					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CACCAGGTAGCCATTAGAAACG	0.619000											OREG0021103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			7		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579075	33579075	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:33579075G>A	uc001rll.1	-	1	804	c.507C>T	c.(505-507)acC>acT	p.T169T	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	169						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S168*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTCCTTACCGGGTTGATGACG	0.398000														94			27		0	0	1	0	0
POLR2J4	84820	broad.mit.edu	37	7	44012813	44012813	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:44012813G>A	uc010kxw.2	-	6	826	c.705C>T	c.(703-705)ccC>ccT	p.P235P	POLR2J4_uc003tjc.2_Non-coding_Transcript|POLR2J4_uc003tjd.3_5'UTR					Homo sapiens polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene (POLR2J4), non-coding RNA.																		ACTCACCTGAGGGCATCCTCA	0.607000														9			6		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753131	76753131	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:76753131C>T	uc002lmt.3	+	1	1140	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	SALL3_uc010dra.3_5'UTR	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGGTCAGCATCGCGGCCACGG	0.697000														7			6		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14656776	14656776	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:14656776T>G	uc001rcc.1	-	10	1753	c.1592A>C	c.(1591-1593)cAg>cCg	p.Q531P		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	531					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TGGCATGCCCTGATGTAGAGT	0.428000														55			16		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39845428	39845428	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:39845428G>A	uc010lwy.1	+	6	769	c.527G>A	c.(526-528)aGc>aAc	p.S176N	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	163					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGGGGAGAGAGCCTGCATGGT	0.468000														10			5		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40327692	40327692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:40327692G>A	uc002hzb.2	-	5	1225	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	298					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	p.R298H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCAATGGAACGAGGAGCAGAG	0.547000														10			68		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74074486	74074486	+	Silent	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:74074486G>T	uc021ulp.1	-	7	3777	c.3459C>A	c.(3457-3459)acC>acA	p.T1153T	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGTCTGGACGGTACCTGTGT	0.498000														12			7		0.307466	0.307466	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73744962	73744963	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:73744962_73744963GG>AA	uc002jpg.3	+	26	3339_3340	c.3152_3153GG>AA	c.(3151-3153)ggg>gAA	p.G1051E	ITGB4_uc002jph.3_Missense_Mutation_p.G1051E|ITGB4_uc002jpi.4_Missense_Mutation_p.G1051E|ITGB4_uc002jpj.3_Missense_Mutation_p.G1051E	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1051	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCCAGCCTGGGGAGGCCTGGA	0.649000														7			9		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573456	56573456	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:56573456G>A	uc002iwj.2	-	15	2157	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	683						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGTCTTTCTGGCTGCTGGGC	0.493000														16			122		0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203260	1203260	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:1203260G>A	uc001adp.3	-	1	302	c.113C>T	c.(112-114)cCt>cTt	p.P38L	UBE2J2_uc001adm.3_5'UTR|UBE2J2_uc001ado.3_Missense_Mutation_p.P38L|UBE2J2_uc001adq.3_5'UTR|UBE2J2_uc001adr.3_Intron	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	38					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.P38H(2)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		AATATTCGAAGGGAGGGGCTC	0.632000														332			65		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513481	99513481	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:99513481G>A	uc003dti.1	+	2	867	c.739G>A	c.(739-741)Ggg>Agg	p.G247R	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G246R|COL8A1_uc003dth.1_Missense_Mutation_p.G246R	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	246	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAAGGGCTTCGGGATGCCAGG	0.627000														98			28		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104460925	104460925	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:104460925C>T	uc001yom.4	+	10	1335	c.1305C>T	c.(1303-1305)gtC>gtT	p.V435V	TDRD9_uc001yon.4_Silent_p.V173V	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	435	Helicase C-terminal.				DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TAAGTCCAGTCCCTGGGTACA	0.358000														8			12		0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43420809	43420809	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:43420809C>T	uc003ova.3	-	3	414	c.205G>A	c.(205-207)Ggt>Agt	p.G69S	DLK2_uc003ovb.3_Missense_Mutation_p.G69S	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	69	EGF-like 2.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCAGGTACCGTGCTGGCAG	0.632000														30			10		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130353469	130353469	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:130353469G>A	uc010htl.3	+	26	5059	c.5028_splice	c.e26+1	p.K1676_splice	COL6A6_uc003eni.4_Splice_Site	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1676	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGGACCTAAGGTACCGTGTG	0.403000														10			3		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546884	11546884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:11546884C>T	uc010shk.1	-	2	163	c.128G>A	c.(127-129)gGa>gAa	p.G43E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTGTTGCCTCCTTGTGGGGG	0.522000														157			54		0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41650276	41650276	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:41650276C>T	uc001uxt.3	+	7	772	c.659C>T	c.(658-660)tCc>tTc	p.S220F	WBP4_uc010tfd.2_Missense_Mutation_p.S199F	NM_007187	NP_009118	O75554	WBP4_HUMAN	Homo sapiens WW domain binding protein 4 (formin binding protein 21) (WBP4), mRNA.	220					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CTAGATGAATCCAAATCATCA	0.418000														22			14		0	0	1	0	0
HIATL2	84278	broad.mit.edu	37	9	99711863	99711863	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:99711863T>C	uc004aws.3	-	3	583	c.369A>G	c.(367-369)ccA>ccG	p.P123P						Homo sapiens hippocampus abundant transcript-like 2 (HIATL2), non-coding RNA.																		TCAGTGGGATTGGGAAGCAGG	0.502000														56			13		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30972806	30972806	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:30972806C>T	uc002ead.1	+	3	1151	c.465C>T	c.(463-465)ctC>ctT	p.L155L	SETD1A_uc002eae.1_Silent_p.L155L	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	155	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCAAAAACCTCCACCTTACCT	0.602000														46			28		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205312494	205312494	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:205312494C>T	uc001hcf.1	-	1	807	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.R80Q	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	80										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACCATGATCCGCTTCCCCAG	0.657000														220			34		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95085655	95085655	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:95085655C>T	uc001kin.3	-	45	5322	c.5199G>A	c.(5197-5199)agG>agA	p.R1733R	MYOF_uc001kio.3_Silent_p.R1720R|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1733					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCCCTGAGTCCTGAGGATGT	0.557000														17			77		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895446	90895446	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:90895446C>T	uc003ula.3	+	0	1664	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	417					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGGCCAGCTCCATCTGGTGGG	0.607000														16			33		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808104	8808104	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:8808104G>A	uc002mkl.2	-	0	1069	c.948C>T	c.(946-948)tcC>tcT	p.S316S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	316						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGGCCATGGTGGAGAGGCCGA	0.652000														55			18		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16873845	16873845	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:16873845A>G	uc010rcu.1	-	6	595	c.580T>C	c.(580-582)Tta>Cta	p.L194L	PLEKHA7_uc001mmo.3_Silent_p.L194L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	194	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TAGTAAAATAAGCAGTAATCA	0.428000														55			8		0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46943618	46943618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:46943618C>T	uc002eel.3	+	5	693	c.599C>T	c.(598-600)tCc>tTc	p.S200F	GPT2_uc002eem.3_Missense_Mutation_p.S100F	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	200					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATCCTCGTCTCCGGGGGCGGC	0.547000														22			27		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36724064	36724064	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:36724064C>T	uc003omr.1	-	12	934	c.867G>A	c.(865-867)ccG>ccA	p.P289P	CPNE5_uc003omp.1_5'UTR|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	289										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTTTCTTTTTCGGGTTTACCA	0.522000														7			14		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111653612	111653612	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:111653612G>A	uc004bdm.4	-	27	3551	c.3031C>T	c.(3031-3033)Cgt>Tgt	p.R1011C	IKBKAP_uc004bdl.3_Missense_Mutation_p.R662C|IKBKAP_uc011lwc.2_Missense_Mutation_p.R897C|IKBKAP_uc010mtq.3_Missense_Mutation_p.R662C|IKBKAP_uc004bdk.3_Missense_Mutation_p.R15C|IKBKAP_uc010mtp.3_Non-coding_Transcript	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	1011					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCACCGCAACGGGCAAACATG	0.532000														44			19		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183017897	183017897	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:183017897G>A	uc003fli.1	-	10	1291	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	MCF2L2_uc003flj.1_Missense_Mutation_p.R401W|MCF2L2_uc011bqr.1_Non-coding_Transcript|MCF2L2_uc003flp.1_3'UTR	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	401					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCCACACACCGGGGCCTGATG	0.512000														35			14		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729504	41729504	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:41729504G>A	uc003thq.3	-	1	1260	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	INHBA_uc003thr.3_Missense_Mutation_p.P342L	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	342					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.A341T(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATAGCCAGAGGGAGCAATGAT	0.537000										TSP Lung(11;0.080)				41			37		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7712101	7712101	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:7712101C>T	uc010xjr.2	+	16	1584	c.1539C>T	c.(1537-1539)ccC>ccT	p.P513P	STXBP2_uc002mha.4_Silent_p.P502P|STXBP2_uc002mhb.4_Silent_p.P499P|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_3'UTR	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	502					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TATCCGACCCCGCCCCCACGG	0.741000														30			26		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148044308	148044308	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:148044308C>T	uc004fcp.3	+	12	3233	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	AFF2_uc004fcq.3_Silent_p.S908S|AFF2_uc004fcr.3_Silent_p.S879S|AFF2_uc011mxb.2_Silent_p.S883S|AFF2_uc004fcs.3_Silent_p.S885S|AFF2_uc011mxc.2_Silent_p.S559S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	918					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCACTTTCCCCACTGCCAG	0.433000														3			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411112	179411112	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:179411112C>T	uc021vsy.1	-	290	87467	c.87242G>A	c.(87241-87243)tGg>tAg	p.W29081*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W22776*|TTN_uc021vta.1_Nonsense_Mutation_p.W22709*|TTN_uc021vtb.1_Nonsense_Mutation_p.W22584*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30008	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTGGTCCAGATAATTTT	0.468000														58			7		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505162	220505162	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:220505162C>T	uc002vmo.4	+	20	3578	c.3369C>T	c.(3367-3369)atC>atT	p.I1123I	SLC4A3_uc002vmp.4_Silent_p.I1096I|SLC4A3_uc010fwm.3_Silent_p.I646I	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1096	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTGTCCATCGTCATGGGGG	0.617000														74			17		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22820418	22820418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:22820418G>A	uc003gqp.4	+	4	1373	c.1282G>A	c.(1282-1284)Gga>Aga	p.G428R	GBA3_uc010iep.3_Missense_Mutation_p.G121R|GBA3_uc011bxo.2_Missense_Mutation_p.G429R	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	428					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGAACCAGGGATACAGCAG	0.418000														13			10		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1041590	1041590	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:1041590G>C	uc002lqw.4	+	2	379	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Missense_Mutation_p.E50Q	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	50					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCCCCTGGAGCACCATGA	0.617000														33			26		0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20625720	20625721	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:20625720_20625721CC>TT	uc001umr.3	+	13	2738_2739	c.2440_2441CC>TT	c.(2440-2442)cct>TTt	p.P814F	ZMYM2_uc001ums.3_Missense_Mutation_p.P814F|ZMYM2_uc021rgy.1_Missense_Mutation_p.P814F|ZMYM2_uc001umt.3_Missense_Mutation_p.P814F|ZMYM2_uc010tco.1_Non-coding_Transcript|ZMYM2_uc001umv.3_Missense_Mutation_p.P194F|ZMYM2_uc001umw.3_Missense_Mutation_p.P267F	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCAGAAAGGACCTGAAAACTTA	0.371000														14			16		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22712439	22712439	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:22712439G>A	uc021wml.1	+	43		c.4850G>A								Parts of antibodies, mostly variable regions.																		CAGCTCCCAGGAACGGCCCCC	0.572000														108			70		0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509297	22509297	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:22509297G>A	uc021rpo.1	+	1	301	c.235G>A	c.(235-237)Gag>Aag	p.E79K	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		GGAAGAAAAGGAGAAAGAAAG	0.468000														5			17		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368695	40368695	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:40368695C>T	uc002omp.4	-	27	12661	c.12653G>A	c.(12652-12654)gGt>gAt	p.G4218D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4218	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCCATGTTACCGCAGAGCCC	0.617000														201			25		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577350	109577351	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:109577350_109577351CC>TT	uc001tob.3	+	1	259_260	c.140_141CC>TT	c.(139-141)ccc>cTT	p.P47L	ACACB_uc001toc.3_Missense_Mutation_p.P47L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	47					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGCCAGGAGCCCTTTCCAGCCT	0.554000														49			21		0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804674	43804674	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:43804674C>T	uc002xng.3	+	1	276	c.252C>T	c.(250-252)gcC>gcT	p.A84A		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	p.C83C(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TCCGGTGCGCCATGTTGAATC	0.512000														78			36		0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478295	79478295	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:79478295C>T	uc002kak.2	-	3	979	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.E241K|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	241					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TCGGGCAGCTCGTAGCTCTTC	0.592000														80			33		0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44940819	44940819	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:44940819G>A	uc001myg.3	+	3	398	c.388G>A	c.(388-390)Gac>Aac	p.D130N	TSPAN18_uc001mye.4_Missense_Mutation_p.D130N|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	130						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						GGGCAATAACGACACAGACGT	0.557000														30			9		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021188	7021188	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:7021188G>A	uc009yfh.1	-	2	2025	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	ZNF214_uc001mfa.2_Missense_Mutation_p.H576Y|ZNF214_uc010ray.1_Missense_Mutation_p.H576Y	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCCTGCATGGACTCTTTGA	0.368000														19			21		0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27444630	27444630	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:27444630G>A	uc011aww.2	-	15	2542	c.2321_splice	c.e15+1	p.S774_splice	SLC4A7_uc011awx.2_Splice_Site_p.S761_splice|SLC4A7_uc021wun.1_Splice_Site_p.S650_splice|SLC4A7_uc021wuo.1_Splice_Site|SLC4A7_uc011awy.2_Splice_Site_p.S757_splice|SLC4A7_uc011awz.2_Splice_Site|SLC4A7_uc011axa.2_Splice_Site_p.S646_splice|SLC4A7_uc011axb.2_Splice_Site_p.S761_splice|SLC4A7_uc021wul.1_Splice_Site|SLC4A7_uc011awu.2_Splice_Site|SLC4A7_uc011awv.2_Splice_Site|SLC4A7_uc021wum.1_Splice_Site|SLC4A7_uc003cdu.4_Splice_Site_p.S646_splice|SLC4A7_uc010hfl.3_Splice_Site_p.S315_splice|SLC4A7_uc003cdv.3_Splice_Site_p.S765_splice|SLC4A7_uc003cdw.3_Splice_Site_p.S641_splice	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	765						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AAATACTTACGAGTAGCTGGT	0.338000														36			14		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75553423	75553423	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:75553423C>T	uc001jvj.3	+	10	2646	c.2391C>T	c.(2389-2391)gcC>gcT	p.A797A	KIAA0913_uc001jve.3_Silent_p.A797A|KIAA0913_uc009xrl.3_Silent_p.A797A|KIAA0913_uc001jvf.3_Silent_p.A797A|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Silent_p.A220A|KIAA0913_uc010qkr.2_Silent_p.A220A	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	797							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					TGGAGCTTGCCCAGGATCTGC	0.622000														13			50		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131912262	131912262	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:131912262G>A	uc003vra.4	-	6	2059	c.1830C>T	c.(1828-1830)atC>atT	p.I610I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	610						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGTAGCACTGGATCTGATTGC	0.587000														19			22		0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49218553	49218553	+	Missense_Mutation	SNP	T	C	C	rs77581903		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:49218553T>C	uc001jgd.3	-	7	1745	c.1586A>G	c.(1585-1587)cAt>cGt	p.H529R	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATATTTGGAATGGATCCAGCG	0.567000														8			3		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027447	2027447	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:2027447G>A	uc021qsx.1	-	0	424	c.193C>T	c.(193-195)Cct>Tct	p.P65S	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.P65S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	65						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCCCACGCAGGGGACAGGGAG	0.622000														5			8		0	0	1	0	0
AGER	177	broad.mit.edu	37	6	32150705	32150705	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:32150705G>A	uc003oal.2	-	5	704	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	AGER_uc021yvm.1_Missense_Mutation_p.P115S|AGER_uc021yvn.1_Missense_Mutation_p.P101S|AGER_uc010jtw.2_Non-coding_Transcript|AGER_uc021yvp.1_Missense_Mutation_p.P10S|AGER_uc021yvq.1_Missense_Mutation_p.P101S|AGER_uc011dpn.2_Missense_Mutation_p.P101S|AGER_uc011dpm.2_Missense_Mutation_p.P101S|AGER_uc003oap.2_Missense_Mutation_p.P218S|AGER_uc021yvr.1_Missense_Mutation_p.P202S|AGER_uc003oam.2_Intron|AGER_uc003oau.2_Missense_Mutation_p.P202S|AGER_uc003oas.2_Missense_Mutation_p.P202S|AGER_uc010jtv.2_Missense_Mutation_p.P202S|AGER_uc003oar.3_Missense_Mutation_p.P101S|AGER_uc003oaq.2_Missense_Mutation_p.P188S|AGER_uc003oat.2_Missense_Mutation_p.P218S|AGER_uc003oan.2_Missense_Mutation_p.P188S|AGER_uc011dpo.2_Missense_Mutation_p.P115S|AGER_uc003oao.2_Non-coding_Transcript|AGER_uc021yvo.1_Missense_Mutation_p.P115S|AGER_uc011dpp.2_Missense_Mutation_p.P233S|AGER_uc011dpq.2_Missense_Mutation_p.P249S	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	202	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GTGGGACGGGGATCTCCTCCC	0.627000														60			13		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178704995	178704995	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:178704995G>A	uc002ulq.3	-	5	1801	c.1483C>T	c.(1483-1485)Ccg>Tcg	p.P495S	PDE11A_uc002ulp.3_Missense_Mutation_p.P51S|PDE11A_uc002ulr.3_Missense_Mutation_p.P245S|PDE11A_uc002uls.1_Missense_Mutation_p.P137S|PDE11A_uc002ult.1_Missense_Mutation_p.P245S|PDE11A_uc002ulu.1_Missense_Mutation_p.P137S	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	495	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.D494N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCAAAGCGCGGATCCTGGTAG	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial					43			14		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112288	248112288	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:248112288C>T	uc001idt.1	+	0	129	c.129C>T	c.(127-129)tcC>tcT	p.S43S	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GAAACCTGTCCATGATTCTTC	0.408000														322			52		0	0	1	0	0
LSM10	84967	broad.mit.edu	37	1	36859427	36859427	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:36859427G>A	uc001cao.1	-	1	454	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	LSM10_uc021olj.1_Missense_Mutation_p.H102Y	NM_032881	NP_116270	Q969L4	LSM10_HUMAN	Homo sapiens LSM10, U7 small nuclear RNA associated (LSM10), mRNA.	102					RNA splicing|S phase of mitotic cell cycle|histone mRNA metabolic process|mRNA processing|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				CGCACCCGATGGATAATCTGC	0.567000														23			76		0	0	1	0	0
COMMD5	28991	broad.mit.edu	37	8	146076258	146076258	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:146076258G>A	uc022bcr.1	-	0	466	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	COMMD5_uc003zel.1_Non-coding_Transcript|COMMD5_uc003zem.3_Missense_Mutation_p.R156W|COMMD5_uc003zen.3_Missense_Mutation_p.R156W|COMMD5_uc003zeo.4_Missense_Mutation_p.R156W|COMMD5_uc010mgf.2_Missense_Mutation_p.R156W	NM_014066	NP_054785	Q9GZQ3	COMD5_HUMAN	Homo sapiens COMM domain containing 5 (COMMD5), transcript variant 1, mRNA.	156	COMM.					nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACCCGCCACCGAAAGTCAGCA	0.637000														13			9		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342748	117342748	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:117342748G>A	uc001prh.1	-	14	2971	c.2969C>T	c.(2968-2970)tCc>tTc	p.S990F		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	930	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAAGTCCCAGGAATCTGGAGA	0.527000														20			23		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021653	51021653	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:51021653C>T	uc002pss.3	-	2	1454	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	439	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGCTGAGTTCGTCACCATGC	0.706000														24			30		0	0	1	0	0
LURAP1	541468	broad.mit.edu	37	1	46685847	46685847	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:46685847C>T	uc010oma.2	+	1	768	c.675C>T	c.(673-675)gcC>gcT	p.A225A	POMGNT1_uc001cpg.3_5'UTR|POMGNT1_uc001cpf.3_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	Homo sapiens chromosome 1 open reading frame 190 (C1orf190), mRNA.	225					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine production	cytoplasm											GCTTCGAGGCCCACTGGTTCT	0.532000														82			11		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278642	50278642	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:50278642C>T	uc002lfe.2	+	1	926	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	104	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAACATACTTCATTCCAGACA	0.438000														42			22		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954796	33954796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:33954796G>A	uc001zhi.3	+	34	5135	c.5065G>A	c.(5065-5067)Gag>Aag	p.E1689K	RYR3_uc010bar.3_Missense_Mutation_p.E1689K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1689	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATTCCCTTGGAGAGTCTCAG	0.582000														8			51		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19112442	19112442	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:19112442G>A	uc002nkz.1	-	7	3033	c.3013C>T	c.(3013-3015)Cgt>Tgt	p.R1005C	SUGP2_uc002nkx.2_Missense_Mutation_p.R991C|SUGP2_uc002nla.1_Missense_Mutation_p.R991C|SUGP2_uc002nlb.2_Missense_Mutation_p.R991C|SUGP2_uc010xqk.1_Missense_Mutation_p.R760C	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	991					RNA splicing|mRNA processing	nucleus	RNA binding	p.R991C(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GACATGGGACGACCCCGAGGC	0.423000														6			17		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2044108	2044108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:2044108G>A	uc003wpx.4	+	17	2285	c.2147G>A	c.(2146-2148)gGg>gAg	p.G716E	MYOM2_uc011kwi.2_Missense_Mutation_p.G141E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	716	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATCCTTATGGGATTACGCTC	0.617000														92			56		0	0	1	0	0
AK125237	0	broad.mit.edu	37	10	27551988	27551988	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:27551988G>A	uc001itt.1	+	1		c.244G>A								Homo sapiens cDNA FLJ43247 fis, clone HEART2000611.																		TGGAATCCTCGAAATCACCCC	0.448000														4			11		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781444	135781444	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:135781444A>G	uc004cca.2	-	14	1755	c.1521T>C	c.(1519-1521)ttT>ttC	p.F507F	TSC1_uc004ccb.3_Silent_p.F506F|TSC1_uc011mcq.1_Silent_p.F456F|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	507					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.P506P(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGTCTCGGTAAAAGGGAGAGT	0.562000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					16			7		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24401909	24401909	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:24401909C>T	uc001bin.4	-	21	2921	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K	MYOM3_uc001bim.4_Missense_Mutation_p.E577K|MYOM3_uc001bio.3_Missense_Mutation_p.E920K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	920										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCAGGGGCTTCAAAAGCCAAA	0.517000														32			78		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7802801	7802801	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:7802801G>T	uc002gjd.2	+	14	2663	c.2661G>T	c.(2659-2661)gaG>gaT	p.E887D	CHD3_uc002gje.2_Missense_Mutation_p.E828D|CHD3_uc002gjf.2_Missense_Mutation_p.E828D	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	828	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCATTCGTGAGAATGAATTCT	0.488000														26			118		6.59513e-52	6.73554e-52	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57173805	57173805	+	Silent	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:57173805G>T	uc003hbk.2	+	4	616	c.225G>T	c.(223-225)ctG>ctT	p.L75L	KIAA1211_uc010iha.2_Silent_p.L68L|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.3_5'Flank|KIAA1211_uc003hbm.1_5'Flank	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	75										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATCTGTTCCTGACCAGTCCCA	0.493000														7			18		1.56452e-12	1.58378e-12	1	1	0
BICD1	636	broad.mit.edu	37	12	32369310	32369310	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:32369310G>A	uc001rku.3	+	1	424	c.343G>A	c.(343-345)Gag>Aag	p.E115K	BICD1_uc001rkv.3_Missense_Mutation_p.E115K|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	115					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GATGCAGAACGAGCTGAAACA	0.512000														33			10		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68028984	68028984	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:68028984G>A	uc001xjl.1	+	6	778	c.636G>A	c.(634-636)aaG>aaA	p.K212K		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	212						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGGTCTGAAGGCAGCTGTGC	0.607000														12			14		0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145738661	145738662	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:145738661_145738662GG>AA	uc003zdj.3	-	14	2444_2445	c.2402_2403CC>TT	c.(2401-2403)gcc>gTT	p.A801V		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	801	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGGCCCACGGCCTGCACGTA	0.723000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					15			12		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28997622	28997622	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:28997622G>A	uc003xhh.4	-	20	2630	c.2571C>T	c.(2569-2571)gtC>gtT	p.V857V	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	857					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCTCAAAGGAGACCTCTGCCA	0.532000														7			7		0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205766063	205766063	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:205766063G>T	uc001hdh.1	-	7	1933	c.1061C>A	c.(1060-1062)cCt>cAt	p.P354H	SLC41A1_uc001hdg.1_5'Flank|AX748016_uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	354						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ATTAATCACAGGCGTGAAGAC	0.507000														19			7		0.00307968	0.00309042	1	1	0
BCL9L	283149	broad.mit.edu	37	11	118771541	118771541	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:118771541C>T	uc001pug.3	-	5	3876	c.2911G>A	c.(2911-2913)Gga>Aga	p.G971R	BCL9L_uc009zal.3_Missense_Mutation_p.G966R	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	971	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TTGAGAGGTCCTGGCGGGTTG	0.642000														35			52		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16248807	16248807	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:16248807C>T	uc002den.4	-	27	4001	c.3964G>A	c.(3964-3966)Ggg>Agg	p.G1322R	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1322	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATCCAGATCCCACCCTCAGCT	0.692000														2			5		0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150235700	150235700	+	Silent	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:150235700G>T	uc001etx.3	+	7	1029	c.723G>T	c.(721-723)ctG>ctT	p.L241L		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	Homo sapiens carbonic anhydrase XIV (CA14), mRNA.	241						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCTCAGCTGGAAAAGCTTC	0.527000														106			13		3.27435e-08	3.30304e-08	1	1	0
DNAH12	201625	broad.mit.edu	37	3	57494134	57494134	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:57494134C>T	uc003dit.2	-	6	857	c.676G>A	c.(676-678)Gtt>Att	p.V226I	DNAH12_uc003diu.2_Missense_Mutation_p.V226I	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	226	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCCAACAAAACTGTATCAGCA	0.303000														24			8		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336640	30336640	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:30336640C>T	uc009xle.2	-	1	239	c.102G>A	c.(100-102)agG>agA	p.R34R	KIAA1462_uc001iux.3_Silent_p.R34R|KIAA1462_uc001iuy.3_Silent_p.R34R|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	34								p.A33V(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTGTCCCAGTCCTCGCTGCCT	0.612000														12			51		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094279	143094279	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:143094279C>A	uc003qjd.3	-	4	2340	c.1597G>T	c.(1597-1599)Gct>Tct	p.A533S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTACAGGAGCTTCTAAGAGA	0.438000														42			9		0.000274275	0.000275391	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56586122	56586122	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:56586122T>C	uc010xeg.2	+	2	800	c.603T>C	c.(601-603)gtT>gtC	p.V201V	ZNF532_uc002lhp.3_Silent_p.V199V|ZNF532_uc002lho.3_Silent_p.V201V|ZNF532_uc002lhr.3_Silent_p.V199V|ZNF532_uc002lhs.3_Silent_p.V199V	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	201					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						ACAAAGCTGTTAAGAGAGAAA	0.443000														94			71		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433514	40433514	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:40433514T>A	uc002omp.4	-	1	763	c.755A>T	c.(754-756)tAt>tTt	p.Y252F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	252	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGTACTACATAGTGGGTGCC	0.592000														34			21		0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192973492	192973492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:192973492G>A	uc003fta.3	+	1	458	c.53G>A	c.(52-54)gGg>gAg	p.G18E		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	Homo sapiens HRAS-like suppressor (HRASLS), mRNA.	18								p.G18G(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CCCTGCCCAGGGGACTTGATC	0.463000														44			47		0	0	1	0	0
C1orf50	79078	broad.mit.edu	37	1	43240423	43240423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:43240423C>T	uc001cia.4	+	3	365	c.298C>T	c.(298-300)Cac>Tac	p.H100Y		NM_024097	NP_077002	Q9BV19	CA050_HUMAN	Homo sapiens chromosome 1 open reading frame 50 (C1orf50), transcript variant 1, mRNA.	100								p.H100R(1)		large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAAGATGCTCACAGAGATGC	0.383000														127			18		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545032	186545032	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:186545032G>A	uc003iyg.3	-	12	1913	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.F613F|SORBS2_uc003iyl.3_Silent_p.F513F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.F417F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	513						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCAGCTTTTCGAATTCGGAGA	0.572000														31			42		0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24543635	24543635	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:24543635G>A	uc003gqx.3	-	7	1514	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	DHX15_uc003gqw.3_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	449	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TCTGATTCGAGGATTGTAGAC	0.428000														18			7		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80271462	80271462	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:80271462C>T	uc001xun.3	+	15	3304	c.2813C>T	c.(2812-2814)tCa>tTa	p.S938L	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.S306L|NRXN3_uc010asw.3_Missense_Mutation_p.S336L|NRXN3_uc001xur.4_Missense_Mutation_p.S306L	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	306					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAGCCAACATCAGATGATCTT	0.388000														65			19		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45417512	45417512	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:45417512T>C	uc001rok.1	-	2	837	c.665A>G	c.(664-666)aAc>aGc	p.N222S		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TAGTCCCAAGTTGATGGCAAG	0.413000														141			57		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167792324	167792324	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:167792324C>A	uc001ger.3	-	28	4388	c.4090G>T	c.(4090-4092)Gag>Tag	p.E1364*	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Nonsense_Mutation_p.E1211*|ADCY10_uc009wvk.3_Nonsense_Mutation_p.E1272*	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1364					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACAGAAAGCTCCCACAGCCGC	0.448000														27			59		3.30712e-30	3.37553e-30	1	1	0
UGT2B15	7366	broad.mit.edu	37	4	69535767	69535767	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:69535767G>A	uc021xow.1	-	0	728	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	190					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGGAAGGAGGGAACAGAAATC	0.363000														88			39		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10776721	10776721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:10776721G>A	uc001mja.3	+	2	510	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	121					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACAATGGCCGATAAAATTAT	0.338000														61			14		0	0	1	0	0
ATF3	467	broad.mit.edu	37	1	212792763	212792763	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:212792763G>A	uc001hjf.3	+	3	566	c.412G>A	c.(412-414)Gag>Aag	p.E138K	ATF3_uc021piu.1_Missense_Mutation_p.E81K|ATF3_uc001hji.3_3'UTR|ATF3_uc021pit.1_Missense_Mutation_p.E81K|ATF3_uc001hjh.3_Missense_Mutation_p.E138K|ATF3_uc021piv.1_3'UTR	NM_001030287	NP_001025458	P18847	ATF3_HUMAN	Homo sapiens activating transcription factor 3 (ATF3), transcript variant 3, mRNA.	138	Leucine-zipper.					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		GCTCAAGAACGAGAAGCAGCA	0.498000														18			84		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693336	94693336	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:94693336C>T	uc011cdt.2	+	15	2969	c.2711C>T	c.(2710-2712)cCt>cTt	p.P904L	GRID2_uc011cdu.2_Missense_Mutation_p.P809L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	904					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GATTTGACCCCTCTGGACATT	0.458000														59			20		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559294	1559294	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:1559294G>A	uc010gai.3	-	1	222	c.123C>T	c.(121-123)tcC>tcT	p.S41S	SIRPB1_uc002wfk.4_Silent_p.S41S	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	41	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAACTGATACGGACTTTTCAG	0.542000														59			70		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060263	9060263	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9060263C>T	uc002mkp.3	-	2	27387	c.27183G>A	c.(27181-27183)gtG>gtA	p.V9061V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9063	Ser-rich.|Thr-rich.			S -> T (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGTGATCACTTCAGTGG	0.498000														35			28		0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47763920	47763920	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:47763920C>T	uc010xym.2	+	4	493	c.286C>T	c.(286-288)Cct>Tct	p.P96S		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	96	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGCCGGACTCCTCCACAGCA	0.721000														23			22		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537682	54537682	+	Splice_Site	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:54537682G>T	uc003dhf.3	+	5	592	c.544_splice	c.e5+1	p.D182_splice	CACNA2D3_uc011beu.1_Splice_Site|CACNA2D3_uc003dhg.1_Splice_Site_p.D88_splice|CACNA2D3_uc003dhh.1_Splice_Site|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	182						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACAACAAAGGTAAGACTCCC	0.428000														14			5		0.014758	0.0147923	1	1	0
ANK1	286	broad.mit.edu	37	8	41551602	41551602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:41551602C>T	uc003xok.3	-	28	3430	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E432K|ANK1_uc003xoi.3_Missense_Mutation_p.E1116K|ANK1_uc003xoj.3_Missense_Mutation_p.E1116K|ANK1_uc003xol.3_Missense_Mutation_p.E1116K|ANK1_uc003xom.3_Missense_Mutation_p.E1157K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1116					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGACAAGCTCATCCGGGACA	0.627000														30			12		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103313	52103313	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:52103313C>T	uc001jje.3	-	6	1516	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.E188K|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.E188K|SGMS1_uc021pqo.1_Missense_Mutation_p.E188K|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	194					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCATTAATTTCACAAATAGAA	0.433000														5			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058282	9058282	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9058282C>T	uc002mkp.3	-	2	29368	c.29164G>A	c.(29164-29166)Gaa>Aaa	p.E9722K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9724	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTTGTTTCCACAAAGCGA	0.488000														19			5		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019049	14019049	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:14019049G>A	uc001rbt.2	-	1	273	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	32					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCTGGGGGGGCTCTTCTGA	0.577000														38			12		0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555559	182555559	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:182555559G>A	uc009wxz.2	-	1	640	c.383C>T	c.(382-384)gCc>gTc	p.A128V	RNASEL_uc001gpk.3_Missense_Mutation_p.A128V|RNASEL_uc009wya.1_Missense_Mutation_p.A128V	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	128					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTCCATGAAGGCTGTGAAGCC	0.443000														23			43		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24783481	24783481	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:24783481C>T	uc001iru.4	+	6	2135	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	KIAA1217_uc001irs.3_Nonsense_Mutation_p.Q498*|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irv.1_Intron|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Intron|KIAA1217_uc001iry.3_Intron	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	578					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGGCCTTGTTCAGTCTGCGCT	0.368000														9			29		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56382202	56382202	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:56382202C>T	uc002qmd.4	+	6	2786	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	NLRP4_uc002qmf.3_Silent_p.F713F|NLRP4_uc010etf.3_Silent_p.F563F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	788							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGTTGGCTTTCTGCCACCTCA	0.483000														25			19		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921066	247921066	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:247921066G>A	uc010pza.2	-	0	643	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TAAGATACGAGGATACAGACA	0.493000														12			20		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754973	54754973	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:54754973T>A	uc010yer.1	-	12	1773	c.1662A>T	c.(1660-1662)agA>agT	p.R554S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	561					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCTCCTAGGTCTGGAGTGTT	0.577000														20			3		0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101486875	101486875	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:101486875G>A	uc001kqb.4	-	3	1049	c.432C>T	c.(430-432)ttC>ttT	p.F144F	COX15_uc001kqc.4_Silent_p.F144F|COX15_uc010qpj.2_Intron	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	144					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGTACCAGATGAACTTGAATT	0.453000														2			13		0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994516	45994516	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:45994516C>T	uc002zfk.1	+	0	911	c.881C>T	c.(880-882)tCc>tTc	p.S294F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	294	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCTGGGGCTTCCTCTCTGTGC	0.642000														102			44		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31227664	31227665	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:31227664_31227665GG>AA	uc004dda.1	-	64	9757_9758	c.9513_9514CC>TT	c.(9511-9516)gtccct>gtTTct	p.P3172S	DMD_uc004dcq.1_Missense_Mutation_p.P443S|DMD_uc004dcr.1_Missense_Mutation_p.P712S|DMD_uc004dcs.1_Missense_Mutation_p.P712S|DMD_uc004dct.1_Missense_Mutation_p.P712S|DMD_uc004dcu.1_Missense_Mutation_p.P712S|DMD_uc004dcv.1_Missense_Mutation_p.P712S|DMD_uc004dcw.2_Missense_Mutation_p.P1828S|DMD_uc004dcx.2_Missense_Mutation_p.P1831S|DMD_uc004dcz.2_Missense_Mutation_p.P3049S|DMD_uc004dcy.1_Missense_Mutation_p.P3168S|DMD_uc004ddb.1_Missense_Mutation_p.P3164S|DMD_uc004dcp.1_Missense_Mutation_p.P104S|DMD_uc011mkb.1_Missense_Mutation_p.P104S|DMD_uc004dcm.1_Missense_Mutation_p.P104S|DMD_uc004dcn.1_Missense_Mutation_p.P104S|DMD_uc004dco.1_Missense_Mutation_p.P104S|DMD_uc010ngm.3_Missense_Mutation_p.P104S	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3172	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACGCAGAGAGGGACGTTGACCA	0.455000														7			35		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334021	37334021	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:37334021G>A	uc003aqa.4	+	13	2388	c.2171G>A	c.(2170-2172)gGg>gAg	p.G724E	CSF2RB_uc003aqc.4_Missense_Mutation_p.G730E	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	724					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCAAACTCAGGGGCCTCGTCT	0.627000														50			45		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238336	3238337	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:3238336_3238337CC>TT	uc004crg.4	-	4	5546_5547	c.5389_5390GG>AA	c.(5389-5391)gga>AAa	p.G1797K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1797						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGGGTGATCCCGTGGTCTGC	0.495000														1			22		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155237102	155237102	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:155237102C>T	uc003inw.2	-	14	3693	c.3693G>A	c.(3691-3693)atG>atA	p.M1231I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1231	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCTGAGTTTTCATTTCATAAT	0.378000														11			15		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76456045	76456045	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:76456045G>A	uc003yaq.3	+	3	248	c.-22_splice	c.e3-1		HNF4G_uc003yap.1_Splice_Site|HNF4G_uc003yar.3_Splice_Site_p.D30_splice	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTATTGACAGATAGTTCTGC	0.403000														27			20		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808729	18808729	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:18808729C>T	uc001bax.3	+	0	1306	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	KLHDC7A_uc009vpg.3_Silent_p.I200I	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	418						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCCATATCCCGCTCACCC	0.652000														87			11		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526448	54526448	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:54526448G>A	uc002iun.1	+	9	1152	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	373										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AGACTGGAAAGACTATGACGA	0.488000														7			28		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26688453	26688453	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:26688453C>T	uc001bmg.1	-	6	1382	c.1264G>A	c.(1264-1266)Ggg>Agg	p.G422R	ZNF683_uc001bmh.1_Missense_Mutation_p.G402R|ZNF683_uc009vsj.1_Missense_Mutation_p.G402R	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGCCGGGCCCCGGAGTGCAGG	0.642000														70			48		0	0	1	0	0
LOC100132247	0	broad.mit.edu	37	16	21854860	21854860	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:21854860G>A	uc002djr.3	-	5	574	c.392C>T	c.(391-393)tCc>tTc	p.S131F	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.S112F|LOC100132247_uc010vbn.1_Missense_Mutation_p.S131F	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		TCCTCGAAAGGAAGAAACTCT	0.428000														133			43		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104961395	104961395	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:104961395G>A	uc004elz.1	+	6	1564	c.808G>A	c.(808-810)Gga>Aga	p.G270R		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	270	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCATTCTTCGGATTCAGTGG	0.438000														8			57		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79371428	79371428	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:79371428G>A	uc003hlb.2	+	44	6838	c.6398G>A	c.(6397-6399)gGc>gAc	p.G2133D		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2132					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGAAGCATGGCAACCTGGAG	0.493000														62			10		0	0	1	0	0
RPS9	6203	broad.mit.edu	37	19	54710250	54710250	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:54710250C>T	uc002qdx.3	+	3	383	c.327C>T	c.(325-327)cgC>cgT	p.R109R	RPS9_uc002qdy.3_Intron|RPS9_uc002qea.3_Silent_p.R109R|RPS9_uc002qec.3_Non-coding_Transcript|RPS9_uc002qeb.3_Silent_p.R109R	NM_001013	NP_001004	P46781	RS9_HUMAN	Homo sapiens ribosomal protein S9 (RPS9), mRNA.	109	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TAGAGAGACGCCTGCAGACCC	0.602000														37			11		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179728	166179728	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:166179728C>T	uc002udc.3	+	11	2024	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	SCN2A_uc002udd.3_Silent_p.F578F|SCN2A_uc002ude.3_Silent_p.F578F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	578					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CGAGCCTTTTCAGCTTCAGAG	0.468000														46			8		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133047030	133047030	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:133047030G>A	uc003ytg.2	-	8	731	c.731C>T	c.(730-732)cCa>cTa	p.P244L	OC90_uc011lix.1_Missense_Mutation_p.P244L	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	260					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGGCTTACCTGGAGGGGACGT	0.512000														74			26		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034617	52034617	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:52034617G>A	uc002pwy.3	-	1	432	c.224C>T	c.(223-225)cCa>cTa	p.P75L	SIGLEC6_uc002pwz.3_Missense_Mutation_p.P75L|SIGLEC6_uc010ydb.2_Missense_Mutation_p.P39L|SIGLEC6_uc010ydc.2_Missense_Mutation_p.P75L|SIGLEC6_uc002pxa.3_Missense_Mutation_p.P75L|SIGLEC6_uc010eoz.2_Missense_Mutation_p.P75L|SIGLEC6_uc010epa.2_Missense_Mutation_p.P64L|SIGLEC6_uc010epb.2_Missense_Mutation_p.P28L	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	75	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGGCCACTGGAACATCAGC	0.587000														25			33		0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39232454	39232454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:39232454C>T	uc002ojd.1	-	3	832	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	175	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCCCAGAACTCATTCCGCTGT	0.627000														17			7		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2523050	2523050	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:2523050G>A	uc001ajy.2	-	22	2400	c.2186C>T	c.(2185-2187)cCc>cTc	p.P729L	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	729					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.K728N(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCGAACTCGGGCCGGTAGGA	0.642000														58			118		0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97403781	97403781	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:97403781G>A	uc002swv.3	-	1	247	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	LMAN2L_uc002swu.3_Silent_p.L71L|LMAN2L_uc010yuu.2_Intron|LMAN2L_uc010yut.2_5'UTR|LMAN2L_uc010yuv.2_Intron|LMAN2L_uc010yuw.2_Intron|LMAN2L_uc010yux.2_5'UTR	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	71	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGATTCCACAGTGAGGAACTG	0.498000														5			21		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21984860	21984860	+	Silent	SNP	G	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:21984860G>C	uc003xas.3	-	2	1760	c.1095C>G	c.(1093-1095)gcC>gcG	p.A365A	HR_uc003xat.3_Silent_p.A365A	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	365							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGGGCCAGAGGCCTTGTTCA	0.647000														110			72		0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590530	44590530	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:44590530C>T	uc002oyg.1	+	4	1115	c.899C>T	c.(898-900)tCa>tTa	p.S300L	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CATAGTAGATCAAATCTTAAT	0.388000														35			25		0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101717162	101717162	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:101717162G>A	uc003yjs.1	-	12	2314	c.1810C>T	c.(1810-1812)Cgt>Tgt	p.R604C	PABPC1_uc011lhc.1_Missense_Mutation_p.R572C|PABPC1_uc011lhd.1_Missense_Mutation_p.R559C|PABPC1_uc003yjt.1_Missense_Mutation_p.R601C|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	604	PABC.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACCTTAGAACGGAGTGACTCT	0.393000														48			28		0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50881477	50881477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:50881477G>A	uc010enw.3	+	4	722	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Intron	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	85					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCTGGGCCACGAGCTTTGCCG	0.622000														148			75		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173662258	173662258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:173662258C>T	uc002uhv.4	+	2	401	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	RAPGEF4_uc002uhu.2_Missense_Mutation_p.R72C|RAPGEF4_uc010fqn.3_Missense_Mutation_p.R55C	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	72					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCCAGTATTTCGCCAGGGTGA	0.388000														6			8		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949816	118949816	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:118949816G>A	uc004bjn.3	+	1	1180	c.799G>A	c.(799-801)Gag>Aag	p.E267K	PAPPA_uc011lxp.1_Missense_Mutation_p.E60K|PAPPA_uc011lxq.2_Missense_Mutation_p.E60K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	267					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GACTCAGCGGGAGATACTGTC	0.567000														67			18		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381809	57381809	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:57381809G>A	uc001nkp.1	+	7	1449	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	SERPING1_uc010rju.1_Missense_Mutation_p.D368N|SERPING1_uc010rjv.1_Missense_Mutation_p.D425N|SERPING1_uc001nkr.1_Missense_Mutation_p.D420N|SERPING1_uc001nks.1_Missense_Mutation_p.D111N	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	420					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGAATTCTTCGATTTTTCTTA	0.483000														44			50		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476379	102476379	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:102476379C>T	uc001yks.2	+	29	6341	c.6177C>T	c.(6175-6177)ttC>ttT	p.F2059F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2059	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACAGGGTTTCCGCACTGCTG	0.463000														41			55		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40066044	40066044	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:40066044C>T	uc003ayc.3	+	25	4195	c.4195_splice	c.e25-1	p.P1399_splice	CACNA1I_uc003ayd.3_Splice_Site_p.P1364_splice|CACNA1I_uc003aye.3_Splice_Site_p.P1314_splice|CACNA1I_uc003ayf.3_Splice_Site_p.P1279_splice	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1399					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCTGCAGCCTGTGACCAAC	0.582000														171			106		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2560642	2560642	+	Nonsense_Mutation	SNP	G	A	A	rs143423360		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:2560642G>A	uc002wgf.1	+	6	789	c.774G>A	c.(772-774)tgG>tgA	p.W258*	TMC2_uc002wgg.1_Nonsense_Mutation_p.W242*|TMC2_uc010zpw.1_Nonsense_Mutation_p.W90*|TMC2_uc010zpx.1_Nonsense_Mutation_p.W89*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	258						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTCCGATGGATGTATGGAG	0.403000														33			58		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782469	134782469	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:134782469C>T	uc003lav.3	-	0	570	c.330G>A	c.(328-330)caG>caA	p.Q110Q		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	110						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGTTCATCCTGGGTCCCTG	0.572000														18			50		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151095855	151095855	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:151095855A>G	uc003eyp.3	+	28	4396	c.4267A>G	c.(4267-4269)Act>Gct	p.T1423A	MED12L_uc011bnz.2_Missense_Mutation_p.T1283A|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.T586A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1423					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGTTGCCAACTTCTGTGCA	0.527000														35			19		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566552	129566552	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:129566552C>T	uc009zyl.1	-	6	2003	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	TMEM132D_uc001uia.2_Missense_Mutation_p.E97K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	559						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCATCATCCTCCTCCTCTTCA	0.642000														45			13		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72832254	72832254	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:72832254C>T	uc002fck.3	-	8	5000	c.4327G>A	c.(4327-4329)Gct>Act	p.A1443T	ZFHX3_uc002fcl.3_Missense_Mutation_p.A529T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1443					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCTTCAGAGCCTGGAAAGTT	0.522000														74			52		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129781471	129781471	+	Splice_Site	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:129781471T>C	uc021zfb.1	+	49	7097	c.6992_splice	c.e49+2	p.S2331_splice	LAMA2_uc003qbn.3_Splice_Site_p.S2329_splice|LAMA2_uc003qbo.3_Splice_Site_p.S2329_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2331					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACTGTCAGGTTAGTTGAGAT	0.408000														27			35		0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48092411	48092411	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:48092411G>A	uc003toh.4	+	6	932	c.720G>A	c.(718-720)aaG>aaA	p.K240K	C7orf57_uc003toi.4_Silent_p.K98K	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	240										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GGACCCCGAAGACCTCCAGGG	0.537000														25			16		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183676246	183676246	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:183676246C>T	uc003ivd.1	+	20	4801	c.4726C>T	c.(4726-4728)Cga>Tga	p.R1576*	ODZ3_uc003ive.1_Nonsense_Mutation_p.R989*	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1576					signal transduction	integral to membrane		p.R1576*(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CATGCCAGTTCGAGTGGTGTC	0.408000														8			18		0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117026314	117026314	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:117026314C>T	uc003pxh.3	+	6	778	c.647C>T	c.(646-648)cCt>cTt	p.P216L		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	213	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		ATACTTCCACCTCTTTTAGAG	0.294000														26			9		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38885853	38885853	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:38885853C>T	uc021yzh.1	+	69	10570	c.10461C>T	c.(10459-10461)ctC>ctT	p.L3487L	DNAH8_uc003ooe.2_Silent_p.L3270L|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGCTGGTCTCCTGTCTTGGA	0.368000														38			12		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79615918	79615918	+	RNA	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:79615918C>T	uc011ctk.1	-	1		c.1597G>A			SPZ1_uc003kgn.3_5'UTR			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAATTTTAATCCTTAACTTTG	0.493000														2			14		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76499012	76499012	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:76499012C>T	uc010dhp.2	-	31	5163	c.5038G>A	c.(5038-5040)Gaa>Aaa	p.E1680K	AK127460_uc002jvt.1_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCTTCTCTTCGTAGGTCACC	0.647000														3			25		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925809	27925809	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:27925809C>T	uc011dkx.2	+	0	791	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAACCACCTTCGCCCAGCTCC	0.453000														123			17		0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212119995	212119995	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:212119995G>A	uc001hiw.2	-	17	2592	c.2369C>T	c.(2368-2370)tCt>tTt	p.S790F	INTS7_uc001hix.2_Missense_Mutation_p.S666F|INTS7_uc009xdb.2_Intron|INTS7_uc001hiy.2_Missense_Mutation_p.S776F|INTS7_uc010pta.2_Missense_Mutation_p.S741F	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	790					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TCTCTGGAAAGAAAGGGGAAC	0.348000														47			6		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14513751	14513751	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:14513751A>T	uc010heg.3	+	9	1434	c.1135A>T	c.(1135-1137)Aca>Tca	p.T379S	SLC6A6_uc003byq.3_Missense_Mutation_p.T379S|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	379					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						AAAAGCTGTGACAATGATGCC	0.532000														32			12		0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47571477	47571477	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:47571477C>T	uc002zig.3	-	4	675	c.631G>A	c.(631-633)Gac>Aac	p.D211N	FTCD_uc002zif.3_Missense_Mutation_p.D211N|FTCD_uc002zih.3_Missense_Mutation_p.D211N|FTCD_uc010gqf.3_Missense_Mutation_p.D211N|FTCD_uc010gqg.1_Missense_Mutation_p.D80N			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	211	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GTCACCTGGTCCTTCCCGCGG	0.647000														46			25		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67297289	67297289	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:67297289C>T	uc002jif.2	-	7	2476	c.1258G>A	c.(1258-1260)Gtc>Atc	p.V420I	ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.V420I|ABCA5_uc002jih.2_Missense_Mutation_p.V420I|ABCA5_uc010dfe.2_Missense_Mutation_p.V420I	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	420					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCTGGAATGACTTGATCAAGA	0.323000														18			50		0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106690398	106690398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:106690398C>T	uc010fjf.3	+	2	292	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	62						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CAAAGAATTCCTTGGCAGCCT	0.517000														105			31		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173588	104173588	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:104173588C>T	uc001kvg.1	-	4	2018	c.1491G>A	c.(1489-1491)agG>agA	p.R497R	PSD_uc001kvh.1_Silent_p.R118R|PSD_uc009xxd.1_Silent_p.R497R	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	497					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TAGGGGGCTCCCTCCCTGGGG	0.622000														14			31		0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122717444	122717444	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:122717444G>A	uc001ucd.3	-	11	1625	c.1512C>T	c.(1510-1512)tcC>tcT	p.S504S	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	504					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGCCAGGCCGGGAAAGCAGCT	0.587000														15			19		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71609891	71609891	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:71609891C>T	uc002fap.2	-	2	373	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	TAT_uc002faq.3_Missense_Mutation_p.E92K|TAT_uc002far.3_Silent_p.*143*	NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	92					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TGGGTAACTTCAGGGTCTGTA	0.493000														33			32		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	463569	463569	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:463569G>A	uc003zgf.2	+	46	6233	c.6121G>A	c.(6121-6123)Gaa>Aaa	p.E2041K	DOCK8_uc022bcu.1_Missense_Mutation_p.E1973K|DOCK8_uc010mgv.3_Missense_Mutation_p.E1941K|DOCK8_uc010mgu.3_Missense_Mutation_p.E1343K|DOCK8_uc003zgk.2_Missense_Mutation_p.E1499K	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	2041					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGACCAGAGGGAATATCAGCA	0.413000														34			10		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18384657	18384658	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:18384657_18384658CC>TT	uc002zng.4	-	4	1030_1031	c.677_678GG>AA	c.(676-678)agg>aAA	p.R226K	MICAL3_uc011agl.2_Missense_Mutation_p.R226K|MICAL3_uc002znh.2_Missense_Mutation_p.R226K|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Missense_Mutation_p.R226K|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.3_Missense_Mutation_p.R226K|MICAL3_uc011agm.1_Missense_Mutation_p.R226K	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	226						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCAAGGTGTTCCTCCGACCATC	0.550000														14			16		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216248207	216248207	+	Splice_Site	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:216248207C>A	uc002vfa.3	-	31	5161	c.4895_splice	c.e31-1	p.E1632_splice	FN1_uc002vfc.3_Splice_Site_p.E1541_splice|FN1_uc002vfe.3_Splice_Site_p.E1541_splice|FN1_uc002vff.3_Splice_Site_p.E1541_splice|FN1_uc002vfg.3_Splice_Site_p.E1541_splice|FN1_uc002vfh.3_Splice_Site_p.E1541_splice|FN1_uc002vfi.3_Splice_Site_p.E1632_splice|FN1_uc002vfj.3_Splice_Site_p.E1632_splice|FN1_uc002vfb.3_Splice_Site_p.E1541_splice|FN1_uc002vez.3_Splice_Site|FN1_uc010zjp.2_Splice_Site_p.E259_splice|FN1_uc010fvc.1_Splice_Site|FN1_uc010fvd.1_Splice_Site	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1631	Fibronectin type-III 12; extra domain.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTCAATTTCTACAAATAAA	0.463000														25			36		6.05902e-23	6.16613e-23	1	1	0
RUSC2	9853	broad.mit.edu	37	9	35555193	35555193	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:35555193C>T	uc003zww.3	+	2	2406	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.S717S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	717						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACAGCCTTTCCCAGCTCTACA	0.652000														78			22		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411726	126411726	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:126411726C>T	uc003ifj.4	+	16	13749	c.13749C>T	c.(13747-13749)atC>atT	p.I4583I	FAT4_uc011cgp.2_Silent_p.I2824I|FAT4_uc003ifi.1_Silent_p.I2060I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4583					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACCAGATATCATTGAAAGGG	0.478000														21			29		0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146672834	146672834	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:146672834C>T	uc001epi.2	-	6	1472	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	FMO5_uc001eph.4_Silent_p.L361L|FMO5_uc001epj.2_Intron	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	361						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TTGGCCTTTCCAGGTTAGGAG	0.458000														75			8		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115527431	115527431	+	Missense_Mutation	SNP	G	A	A	rs147186440		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:115527431G>A	uc001efr.3	+	29	2854	c.2645G>A	c.(2644-2646)aGa>aAa	p.R882K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R882K|SYCP1_uc009wgw.3_Missense_Mutation_p.R857K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	882					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.K881fs*21(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAAAAAGAGAAAAATGGCC	0.254000														83			13		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234343527	234343527	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:234343527C>T	uc002vui.1	+	4	578	c.566C>T	c.(565-567)tCg>tTg	p.S189L	DGKD_uc002vuj.1_Missense_Mutation_p.S145L|DGKD_uc010fyh.1_Missense_Mutation_p.S56L|DGKD_uc002vuk.1_Missense_Mutation_p.S56L	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	189					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGGGTCACGTCGCACGGGCTG	0.552000														35			94		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47566585	47566585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:47566585G>A	uc002leb.2	-	2	526	c.238C>T	c.(238-240)Ctt>Ttt	p.L80F	MYO5B_uc021ukb.1_Missense_Mutation_p.L79F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	80	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGCTCATGAAGATAGCTAAGG	0.468000														122			105		0	0	1	0	0
FAM43A	131583	broad.mit.edu	37	3	194408327	194408327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:194408327C>T	uc003fuj.3	+	0	1706	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	Homo sapiens family with sequence similarity 43, member A (FAM43A), mRNA.	258										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CGAGGACCTGCTCGGCGAACA	0.672000														1			4		0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90521241	90521241	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:90521241G>A	uc010qmw.2	+	0	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	Homo sapiens lipase, family member N (LIPN), mRNA.	27					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TTTGGAAAATGAAGTGAATCC	0.383000														12			35		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902447	40902447	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:40902447T>C	uc002onr.3	-	6	2081	c.1812A>G	c.(1810-1812)caA>caG	p.Q604Q	PRX_uc002onq.3_Silent_p.Q465Q|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	604	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTCGGGAGTTGCACTTCAG	0.542000														73			102		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155796745	155796745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:155796745G>A	uc001flz.2	-	2	677	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	GON4L_uc001fly.1_Nonsense_Mutation_p.Q194*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q194*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q194*|GON4L_uc001fmc.3_Nonsense_Mutation_p.Q194*|GON4L_uc001fmd.4_Nonsense_Mutation_p.Q194*|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Nonsense_Mutation_p.Q22*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	194					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCCTGGGCTGGCTTACTGGT	0.483000														22			71		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342287	29342287	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:29342287G>A	uc003nme.3	-	0	782	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R260H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GAAGCAGGACGAATATATGTG	0.488000														26			53		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223753	44223753	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:44223753C>T	uc002oxh.3	+	1	1190	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	IRGC_uc021uvh.1_Missense_Mutation_p.S348F	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	348						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CGGCTCTATTCCCAGTCGTCC	0.672000														27			22		0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40343155	40343155	+	Silent	SNP	G	A	A	rs139408288		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:40343155G>A	uc002hzd.3	-	4	1447	c.963C>T	c.(961-963)atC>atT	p.I321I	GHDC_uc002hzg.2_Silent_p.I321I|GHDC_uc010wgg.2_Silent_p.I282I|GHDC_uc002hze.4_Silent_p.I321I|GHDC_uc002hzf.4_Silent_p.I321I	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	321						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGAGCAGCTCGATAAAGGGGG	0.632000														32			38		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38318090	38318091	+	Missense_Mutation	DNP	GG	AA	AA	rs144508698		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:38318090_38318091GG>AA	uc003aui.3	+	5	956_957	c.681_682GG>AA	c.(679-684)tcgggg>tcAAgg	p.G228R		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	228						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGACACGGTCGGGGACCAGGCC	0.649000														46			22		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916049	42916049	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:42916049G>A	uc003cmh.3	-	0	1585	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	420					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGCCTGTCTTGAAGAAGTCCA	0.547000														86			38		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33564060	33564060	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:33564060T>C	uc021qfs.1	+	0	184	c.60T>C	c.(58-60)gtT>gtC	p.V20V	C11orf41_uc001mun.1_Silent_p.V20V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	20						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						ATCTAGGTGTTTCTGGATCCT	0.493000														20			8		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253756	47253756	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:47253756G>A	uc003oyv.3	-	1	1105	c.672C>T	c.(670-672)tcC>tcT	p.S224S		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	224					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTGTGCCAGGGGAAGGTGAGG	0.527000														35			3		0	0	1	0	0
RPRM	56475	broad.mit.edu	37	2	154334949	154334949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:154334949C>T	uc002tyq.1	-	0	374	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	Homo sapiens reprimo, TP53 dependent G2 arrest mediator candidate (RPRM), mRNA.	44					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						GTCCGGGCCTCCCTCCGCGAA	0.672000														50			15		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686207	54686207	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:54686207C>T	uc009znk.3	-	1	1583	c.1073G>A	c.(1072-1074)gGg>gAg	p.G358E	NFE2_uc001sfq.3_Missense_Mutation_p.G358E|NFE2_uc001sfr.4_Missense_Mutation_p.G358E|NFE2_uc009znl.3_Missense_Mutation_p.G358E	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	358					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GAAGATGGTCCCATCGGCAGC	0.572000														26			25		0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53566413	53566413	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:53566413G>A	uc001sby.3	-	3	272	c.146C>T	c.(145-147)cCt>cTt	p.P49L	CSAD_uc001sbw.3_Intron|CSAD_uc009zmt.3_5'UTR|CSAD_uc010snx.2_Missense_Mutation_p.P76L|CSAD_uc001sbz.3_Missense_Mutation_p.P49L|CSAD_uc009zmu.3_Intron|CSAD_uc021qyd.1_Non-coding_Transcript|CSAD_uc010sny.2_Missense_Mutation_p.P49L	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	49					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAGCTCCTCAGGCTCCTTCCA	0.607000														6			5		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93397784	93397784	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:93397784A>G	uc001ybc.4	+	5	805	c.545A>G	c.(544-546)aAc>aGc	p.N182S	CHGA_uc001ybd.4_Intron	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	182	O-glycosylated at one site only in cerebrospinal fluid.				regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		gaggCCACCAACACCCACCCT	0.672000														21			4		0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31300964	31300964	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:31300964G>A	uc010sjy.1	-	10	1296	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGTTCGTTCGGGAGTAAAAGC	0.463000														62			65		0	0	1	0	0
SUMO3	6612	broad.mit.edu	37	21	46226920	46226920	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:46226920G>A	uc002zfz.1	-	3	419	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SUMO3_uc011afi.1_Silent_p.F124F	NM_006936	NP_008867	P55854	SUMO3_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae) (SUMO3), mRNA.	86	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		TCTGCTGCTGGAACACGTCGA	0.602000														19			18		0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89180863	89180863	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:89180863C>T	uc010cig.2	+	4	1302	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	ACSF3_uc010cih.2_Missense_Mutation_p.S100F|ACSF3_uc002fmp.3_Missense_Mutation_p.S365F|ACSF3_uc021tmq.1_Missense_Mutation_p.S365F|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	365					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		ATGGCTCTGTCCGGGCCCCTG	0.647000														67			40		0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12274179	12274179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:12274179G>A	uc002kqt.4	+	3	483	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CIDEA_uc002kqu.4_Missense_Mutation_p.D174N|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	140					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAACCCCAAGGACTTCATCGG	0.582000														43			37		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14277324	14277324	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:14277324C>T	uc001mle.3	+	9	1489	c.1221C>T	c.(1219-1221)atC>atT	p.I407I		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	408					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TCGAGAGAATCGCACGGAAGG	0.537000														24			10		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22040809	22040810	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:22040809_22040810CC>TT	uc010gtj.1	+	10	868_869	c.752_753CC>TT	c.(751-753)acc>aTT	p.T251I	PPIL2_uc002zvh.4_Missense_Mutation_p.T251I|PPIL2_uc002zvi.4_Missense_Mutation_p.T251I|PPIL2_uc002zvg.4_Missense_Mutation_p.T251I|PPIL2_uc011aij.2_Missense_Mutation_p.T230I|PPIL2_uc002zvk.4_5'UTR	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	251					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GCTTCCTTCACCTCCACCGCGA	0.619000														54			48		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115428875	115428875	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:115428875G>A	uc001efr.3	+	13	1344	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E379K|SYCP1_uc009wgw.3_Missense_Mutation_p.E379K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	379					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGGTTACTGAATTTGAAAC	0.299000														91			6		0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39833197	39833197	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:39833197G>A	uc010ggg.1	-	0	510	c.360C>T	c.(358-360)acC>acT	p.T120T	ZHX3_uc002xjr.1_Silent_p.T120T|ZHX3_uc002xjs.1_Silent_p.T120T|ZHX3_uc002xjt.1_Silent_p.T120T|ZHX3_uc002xju.1_Silent_p.T120T|ZHX3_uc002xjv.1_Silent_p.T120T|ZHX3_uc002xjw.1_Silent_p.T120T	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	120					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GCCCCTCAGGGGTTTTTGCCA	0.493000														100			47		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508904	106508904	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:106508904G>A	uc003vdv.4	+	1	983	c.898G>A	c.(898-900)Gga>Aga	p.G300R	PIK3CG_uc003vdu.3_Missense_Mutation_p.G300R|PIK3CG_uc003vdw.3_Missense_Mutation_p.G300R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	300					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.N299N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCAAGAACGGAGAAGAGAT	0.587000														37			10		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47394241	47394241	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:47394241G>A	uc002iov.4	-	1	1311	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L	ZNF652_uc002iow.3_Silent_p.L283L|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCACTTTCCAGGACAAACTTC	0.463000														16			51		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099172	133099172	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:133099172C>T	uc003epi.3	+	3	887	c.617C>T	c.(616-618)cCt>cTt	p.P206L	TMEM108_uc003eph.3_Missense_Mutation_p.P206L|TMEM108_uc003epj.1_Missense_Mutation_p.P206L|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	206						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGCTCCACACCTCTGGGGCAG	0.592000														21			13		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142020937	142020937	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:142020937G>A	uc011krr.1	+	0	229	c.44G>A	c.(43-45)gGa>gAa	p.G15E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.G15E					SubName: Full=V_segment translation product; Flags: Fragment;																		TGTCTCCTGGGAGCAGGTGAG	0.607000														6			5		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3794898	3794898	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:3794898T>A	uc002cvv.3	-	22	4183	c.3979A>T	c.(3979-3981)Aag>Tag	p.K1327*	CREBBP_uc002cvw.3_Nonsense_Mutation_p.K1289*	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1327	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AACTTACTCTTAGCACTGAAT	0.388000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							16			14		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14101557	14101558	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:14101557_14101558GG>TA	uc001mle.3	+	5	931_932	c.663_664GG>TA	c.(661-666)aaggat>aaTAat	p.221_222KD>NN		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	222	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CACACCCAAAGGATTACCCTCG	0.485000														25			10		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152514605	152514605	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:152514605C>T	uc021vrb.1	-	46	6105	c.6076_splice	c.e46-1	p.K2026_splice	NEB_uc002txu.3_Splice_Site_p.K2026_splice|NEB_uc021vrc.1_Splice_Site_p.K2026_splice|NEB_uc010fnx.3_Splice_Site_p.K2026_splice|NEB_uc021vrd.1_Splice_Site_p.K2026_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2026					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTAGAGTTTCTGTAAAGAGA	0.368000														7			4		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183291	13183291	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:13183291C>T	uc010obg.2	-	1	825	c.582G>A	c.(580-582)gtG>gtA	p.V194V		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	194						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GGAGAGAATCCACTTTCTGTT	0.438000														484			16		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151127055	151127055	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:151127055C>T	uc003eyp.3	+	37	5869	c.5740C>T	c.(5740-5742)Ctc>Ttc	p.L1914F	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1914	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGGCTGCTCTCTTTGCTGC	0.522000														41			50		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724304	14724304	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:14724304C>T	uc003byy.3	+	2	536	c.84C>T	c.(82-84)ctC>ctT	p.L28L	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Silent_p.L28L	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	28						cytoplasm|integral to membrane		p.L28L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCTCCAAACTCCTCATGATCT	0.473000														52			25		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114195792	114195792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:114195792C>T	uc003ibe.4	+	14	1770	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	ANK2_uc003ibd.4_Missense_Mutation_p.S536F|ANK2_uc003ibf.4_Missense_Mutation_p.S557F|ANK2_uc003ibc.2_Missense_Mutation_p.S533F|ANK2_uc011cgb.1_Missense_Mutation_p.S572F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	557					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGCCCACTCCTTAGCTACC	0.522000														24			7		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449967	138449967	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:138449967G>A	uc003ihe.4	-	1	2882	c.2495C>T	c.(2494-2496)tCt>tTt	p.S832F	PCDH18_uc003ihf.4_Missense_Mutation_p.S824F|PCDH18_uc011cgz.2_Missense_Mutation_p.S43F|PCDH18_uc003ihg.4_Missense_Mutation_p.S611F|PCDH18_uc011cha.2_Missense_Mutation_p.S12F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	832					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAGAAGCTGAGAGACCTGCTG	0.413000														50			14		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414313	105414313	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:105414313G>A	uc010axc.1	-	6	7595	c.7475C>T	c.(7474-7476)tCa>tTa	p.S2492L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S2392L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2492						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCCCGAATGACGGCATCTT	0.607000														316			95		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298801	107298801	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:107298801G>A	uc004bcb.1	-	0	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGATATCCAGGAAAGAGAGGT	0.413000														32			13		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38771051	38771051	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:38771051G>A	uc021yzh.1	+	21	3107	c.2998G>A	c.(2998-3000)Gaa>Aaa	p.E1000K	DNAH8_uc003ooe.2_Missense_Mutation_p.E783K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGATTTATGAAGTGAAATA	0.358000														36			8		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39760928	39760928	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:39760928T>C	uc001rly.3	-	4	1059	c.639A>G	c.(637-639)acA>acG	p.T213T	KIF21A_uc001rlx.3_Silent_p.T213T|KIF21A_uc001rlz.3_Silent_p.T213T|KIF21A_uc010skl.2_Silent_p.T213T	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	213	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TACTGGCAGTTGTCCGGGATA	0.413000														29			12		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427481	119427481	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:119427481C>T	uc001ehl.1	-	7	1680	c.1365G>A	c.(1363-1365)ggG>ggA	p.G455G	TBX15_uc009whj.1_Silent_p.G279G	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	561						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGTGCTCCATCCCTGACGGCA	0.547000														57			8		0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131515760	131515760	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:131515760G>A	uc004bwa.1	-	3	862	c.429C>T	c.(427-429)ttC>ttT	p.F143F		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	143					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CCTCCTCATAGAAAATGTTTG	0.562000														12			22		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949442	56949442	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:56949442C>T	uc001njl.2	+	0	222	c.75C>T	c.(73-75)tcC>tcT	p.S25S		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CTCTCGATTCCATGGACACAG	0.607000														24			12		0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51483547	51483547	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:51483547G>A	uc002puo.3	-	3	520	c.418C>T	c.(418-420)Cct>Tct	p.P140S	KLK7_uc002pup.3_Missense_Mutation_p.P140S|KLK7_uc021uyj.1_Missense_Mutation_p.P133S|KLK7_uc010eok.3_Missense_Mutation_p.P68S	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	140	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GTGGTTCCAGGGGGTTCGCAG	0.612000														24			21		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31624268	31624268	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:31624268C>T	uc010zuc.2	+	6	595	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	BPIFB6_uc010zud.2_Nonsense_Mutation_p.Q138*	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	199						extracellular region	lipid binding										GCCTGTGGGCCAGATGGGCAC	0.587000														127			144		0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152165	66152165	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:66152165G>A	uc001sso.3	-	1	779	c.358C>T	c.(358-360)Cct>Tct	p.P120S						Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA.																		GTCTCTTCAGGATCTCTGTAG	0.478000														6			7		0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121726102	121726102	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:121726102A>G	uc003vka.3	-	17	2244	c.2148T>C	c.(2146-2148)tcT>tcC	p.S716S	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.S716S|AASS_uc011knw.2_Silent_p.S204S	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	716	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAGTGTGAGCAGAAGAAATGC	0.403000														17			17		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8055966	8055967	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:8055966_8055967GG>AA	uc003gko.3	-	7	913_914	c.770_771CC>TT	c.(769-771)tcc>tTT	p.S257F	ABLIM2_uc003gkl.3_Missense_Mutation_p.S7F|ABLIM2_uc003gkm.4_Missense_Mutation_p.S257F|ABLIM2_uc003gkp.3_Missense_Mutation_p.S257F|ABLIM2_uc003gkq.3_Missense_Mutation_p.S257F|ABLIM2_uc003gkr.3_Missense_Mutation_p.S257F|ABLIM2_uc003gkj.4_Missense_Mutation_p.S257F|ABLIM2_uc003gks.3_Missense_Mutation_p.S257F|ABLIM2_uc011bwl.1_Missense_Mutation_p.S262F	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	257	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GATGCCAGATGGAGGAACCTGT	0.520000														21			8		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44816861	44816861	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:44816861C>T	uc003cnx.4	+	2	327	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	KIF15_uc010hiq.3_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	60	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CACGAGTCTCCGGCTGCACTC	0.448000														36			13		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886852	119886852	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:119886852G>A	uc011bjf.2	-	8	1852	c.1472C>T	c.(1471-1473)cCa>cTa	p.P491L	GPR156_uc011bjg.2_Missense_Mutation_p.P487L	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	491						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CTCAGTCCATGGCTTCTGGCT	0.537000														107			39		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41646618	41646618	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:41646618G>A	uc003gvz.4	+	14	2645	c.2228G>A	c.(2227-2229)aGg>aAg	p.R743K	LIMCH1_uc003gwe.4_Missense_Mutation_p.R358K|LIMCH1_uc003gvu.4_Missense_Mutation_p.R358K|LIMCH1_uc003gvv.4_Missense_Mutation_p.R358K|LIMCH1_uc003gvw.4_Missense_Mutation_p.R358K|LIMCH1_uc003gvx.4_Missense_Mutation_p.R346K|LIMCH1_uc003gvy.4_Missense_Mutation_p.R187K|LIMCH1_uc003gwa.4_Missense_Mutation_p.R199K|LIMCH1_uc011byu.2_Missense_Mutation_p.R192K|LIMCH1_uc003gwc.4_Missense_Mutation_p.R204K|LIMCH1_uc003gwd.4_Missense_Mutation_p.R192K|LIMCH1_uc011byv.2_Missense_Mutation_p.R109K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	358					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AACCAGCTGAGGGAAGAGGAC	0.622000											OREG0016169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			9		0	0	1	0	0
NGB	58157	broad.mit.edu	37	14	77734832	77734832	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:77734832C>T	uc001xtg.1	-	2	673	c.298G>A	c.(298-300)Ggt>Agt	p.G100S		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	Homo sapiens neuroglobin (NGB), mRNA.	100	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		AGCTTCACACCCACTGCCCGG	0.602000														20			35		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96180290	96180290	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:96180290G>A	uc001yfc.4	-	0	244	c.114C>T	c.(112-114)acC>acT	p.T38T	BX247990_uc001yfd.1_5'Flank|TCL1A_uc001yfb.4_Silent_p.T38T	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	38					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GTACCTCGATGGTTAAGGGCA	0.642000			T	TRA@	T-CLL									77			29		0	0	1	0	0
SH2B3	10019	broad.mit.edu	37	12	111855963	111855964	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:111855963_111855964CC>TT	uc001tsf.3	+	0	41_42	c.14_15CC>TT	c.(13-15)gcc>gTT	p.A5V	SH2B3_uc001tse.3_Missense_Mutation_p.A5V|SH2B3_uc010syf.2_Missense_Mutation_p.A5V	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	5					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						AACGGGCCTGCCCTGCAGCCCT	0.723000														18			19		0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84230343	84230343	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:84230343C>T	uc002fhq.2	+	9	1977	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	ADAD2_uc002fhr.2_Silent_p.L539L|AK123582_uc002fhs.1_Intron	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	539					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGCCCTACCTCCTGGCCTTGA	0.682000														60			35		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65978657	65978657	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:65978657G>A	uc001oha.2	+	3	721	c.587G>A	c.(586-588)aGg>aAg	p.R196K	PACS1_uc001ogz.1_Missense_Mutation_p.R196K	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	196				Missing (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ATGCTGCAAAGGAGAAAACGT	0.493000														61			86		0	0	1	0	0
UCHL3	7347	broad.mit.edu	37	13	76134927	76134927	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:76134927C>T	uc001vjq.3	+	2	123	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_006002	NP_005993	P15374	UCHL3_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA.	31					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.F31F(2)		kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		ACTGGCAATTCGTTGATGTAT	0.338000														15			20		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157396738	157396738	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:157396738C>T	uc003wno.3	-	15	2495	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E775K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E763K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E754K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E815K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	792	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCTGTTCTCCGCCTTCAGC	0.632000														21			23		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17086183	17086183	+	Splice_Site	SNP	T	G	G	rs61769735		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:17086183T>G	uc010ock.2	-	7	716	c.716_splice	c.e7-1	p.G239_splice	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.?(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCTCGGACCCTTAGATGGACC	0.652000														29			3		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410232	5410232	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:5410232G>A	uc003soi.4	-	10	4342	c.3993C>T	c.(3991-3993)ttC>ttT	p.F1331F		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1331							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GACTGGGCAGGAACTGGTCAG	0.701000														13			7		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38262267	38262267	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:38262267G>A	uc002ohe.3	-	2	208	c.139C>T	c.(139-141)Cct>Tct	p.P47S	ZNF573_uc010efs.2_5'UTR|ZNF573_uc002ohd.3_Missense_Mutation_p.P45S|ZNF573_uc002ohf.3_5'UTR|ZNF573_uc002ohg.3_5'UTR|ZNF573_uc021utv.1_Intron	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CTCTGATTAGGGTCCAGGTAT	0.403000														18			9		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	89518	89518	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrGL000209.1:89518C>T	uc002quk.1	+	3	458	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	135							receptor activity										CCCCACGGTTCGCACAGGAGA	0.577000														6			58		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141572694	141572694	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:141572694G>A	uc003yvn.3	-	3	417	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	EIF2C2_uc010meo.3_Missense_Mutation_p.R126C|EIF2C2_uc010men.3_Missense_Mutation_p.R49C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	126					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TTGAAGATGCGATCCTTGCCT	0.602000														76			77		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1481118	1481118	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:1481118C>T	uc002qwr.3	+	7	1166	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G360G|TPO_uc002qwx.3_Silent_p.G360G|TPO_uc002qwu.3_Silent_p.G360G|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.G360G	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	360					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGACTCCGGCCGCGCCTACC	0.756000														4			4		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17581312	17581312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:17581312G>A	uc003wxv.3	-	3	2792	c.2318C>T	c.(2317-2319)tCg>tTg	p.S773L	MTUS1_uc003wxt.3_5'Flank|MTUS1_uc011kyg.2_5'Flank|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Intron|MTUS1_uc010lsz.3_Missense_Mutation_p.S773L	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	773						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CACCCATGACGACTGTGCAGT	0.463000														71			38		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41078007	41078007	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:41078007A>C	uc002ony.3	+	33	7488	c.7402A>C	c.(7402-7404)Aca>Cca	p.T2468P	SPTBN4_uc002onz.3_Missense_Mutation_p.T2468P|SPTBN4_uc010egx.3_Missense_Mutation_p.T1211P	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2468	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCCGGGAGCACACACGGTGG	0.592000														94			112		0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16791316	16791316	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:16791316C>T	uc002nes.3	+	2	481	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	130						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	p.K129K(1)|p.K129N(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TCCGCAAGATCGCGGTGGGCA	0.527000														134			47		0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77570096	77570096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:77570096G>A	uc001vkc.3	+	2	574	c.546G>A	c.(544-546)atG>atA	p.M182I		NM_006493	NP_006484	O75503	CLN5_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.	133					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		ACTACACAATGGAATGGTATG	0.413000														59			55		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016612	27016612	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:27016612C>T	uc001mrd.3	+	0	985	c.539C>T	c.(538-540)tCt>tTt	p.S180F		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	180						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTGGACATCTCTGTGGGGCTC	0.557000														47			20		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29581913	29581913	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:29581913C>T	uc001bru.3	+	1	329	c.200C>T	c.(199-201)cCc>cTc	p.P67L	PTPRU_uc009vtq.3_Missense_Mutation_p.P67L|PTPRU_uc009vtr.3_Missense_Mutation_p.P67L|PTPRU_uc001brw.3_Missense_Mutation_p.P67L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	67	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCGGACCTGCCCCACGGTAAG	0.592000														125			16		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990680	63990680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:63990680G>A	uc003peh.3	-	3	810	c.776C>T	c.(775-777)tCc>tTc	p.S259F	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	259					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CCTGGTAGAGGAGGAAAAACT	0.433000														12			11		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13911546	13911546	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:13911546C>T	uc003jfd.2	-	11	1635	c.1593G>A	c.(1591-1593)atG>atA	p.M531I	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	531	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.M531I(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCAAAATCCATTTTCCGCT	0.318000									Kartagener syndrome					12			54		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545580	10545580	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:10545580G>A	uc002gmq.2	-	16	2024	c.1936C>T	c.(1936-1938)Caa>Taa	p.Q646*		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	646	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GAGACAGTTTGGAAGGAAGAA	0.383000														10			12		0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125267885	125267885	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:125267885G>A	uc001qbu.3	+	6	829	c.515G>A	c.(514-516)aGc>aAc	p.S172N	PKNOX2_uc010saz.2_Missense_Mutation_p.S143N|PKNOX2_uc010sba.2_Missense_Mutation_p.S143N|PKNOX2_uc010sbb.2_Missense_Mutation_p.S108N	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	172						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AAGATGCACAGCGACAACCTG	0.537000														47			16		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39358914	39358914	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:39358914T>C	uc001uwv.3	+	5	6297	c.5988T>C	c.(5986-5988)gcT>gcC	p.A1996A	FREM2_uc001uww.3_Silent_p.A82A	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1996					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCCAGGGGCTCAAGTTACAA	0.438000														23			22		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109933	43109933	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:43109933C>T	uc011dve.1	+	12	2009	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F	PTK7_uc003oub.1_Missense_Mutation_p.S648F|PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Missense_Mutation_p.S608F|PTK7_uc003oue.1_Missense_Mutation_p.S518F|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	648	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGAATGGCTCCCTGGTGATC	0.627000														32			52		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111968010	111968010	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:111968010G>A	uc001eba.3	-	3	368	c.312C>T	c.(310-312)acC>acT	p.T104T	OVGP1_uc001eaz.3_Silent_p.T66T|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.T94T	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	104					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTCACCTTGAGGTGCCAAAGT	0.547000														10			19		0	0	1	0	0
IL28B	282617	broad.mit.edu	37	19	39734519	39734519	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:39734519C>T	uc010xut.2	-	3	439	c.437G>A	c.(436-438)aGg>aAg	p.R146K	IL28B_uc010xuu.2_Missense_Mutation_p.R146K	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	146					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCCCCGGGTCCTGGGCCCTGC	0.682000														25			10		0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4731625	4731625	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:4731625C>T	uc002cxa.3	+	12	1343	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	MGRN1_uc002cwz.3_Silent_p.S402S|MGRN1_uc010uxo.2_Silent_p.S380S|MGRN1_uc010uxp.2_Silent_p.S380S|MGRN1_uc010btw.3_Silent_p.S381S|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	402					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GGGCTGTCTCCCCGGCCATCC	0.647000														42			32		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901557	31901557	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:31901557C>T	uc011dor.2	+	2	691	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	CFB_uc003nyc.2_Silent_p.A36A|CFB_uc011doo.2_Silent_p.A36A|CFB_uc011dop.2_Missense_Mutation_p.R82C|CFB_uc003nye.4_Missense_Mutation_p.R205C|CFB_uc003nyf.3_Missense_Mutation_p.R205C|CFB_uc010jtk.3_Missense_Mutation_p.R73C|CFB_uc011doq.2_Missense_Mutation_p.R176C	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	219	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCCCATCTGCCGCCGTGAGTA	0.642000														23			56		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621854	32621854	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:32621854G>A	uc003xiv.2	+	11	2374	c.1857G>A	c.(1855-1857)tcG>tcA	p.S619S	NRG1_uc022ats.1_Silent_p.S569S|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.S624S|NRG1_uc003xiw.2_Silent_p.S616S|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.S361S|NRG1_uc010lvs.2_Silent_p.S361S|NRG1_uc010lvp.2_Silent_p.S573S|NRG1_uc010lvq.2_Silent_p.S549S|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.S462S|NRG1_uc003xja.2_Silent_p.S430S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	619					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCGCTTCTCGACACAGGAAG	0.512000														20			21		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39013705	39013705	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:39013705G>A	uc002oit.3	+	67	10427	c.10297G>A	c.(10297-10299)Gag>Aag	p.E3433K	RYR1_uc002oiu.3_Missense_Mutation_p.E3433K|RYR1_uc002oiv.1_Missense_Mutation_p.E353K|RYR1_uc010xuf.1_Missense_Mutation_p.E353K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3433					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGCGCGGAGGAGCTGTTCAG	0.682000														24			12		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19698203	19698203	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:19698203C>T	uc002wrl.3	+	15	1948	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	584						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGATCTACTCCGTAGGCTTG	0.502000														181			283		0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35825674	35825674	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:35825674G>A	uc010mlc.2	-	1	770	c.485C>T	c.(484-486)tCc>tTc	p.S162F	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.S162F	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	162										endometrium(2)|kidney(1)|lung(4)	7						TTGGACCTGGGATGAAGGGCC	0.522000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			19		0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51826269	51826269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:51826269C>T	uc001vff.2	+	3	1042	c.874C>T	c.(874-876)Cct>Tct	p.P292S	FAM124A_uc001vfe.3_Missense_Mutation_p.P256S|FAM124A_uc001vfg.2_Missense_Mutation_p.P256S	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	256										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCTGCCCAACCCTTGCAGCCC	0.627000														32			20		0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100595084	100595084	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:100595084G>A	uc001ygu.3	+	6	804	c.717_splice	c.e6+1	p.R239_splice	EVL_uc001ygt.3_Splice_Site_p.R237_splice|EVL_uc001ygv.2_Splice_Site_p.R243_splice	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	237	EVH2 block A.|EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				AGAGTCCAACGGGTAAGAGCT	0.637000														24			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069352	9069352	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9069352G>A	uc002mkp.3	-	2	18298	c.18094C>T	c.(18094-18096)Cac>Tac	p.H6032Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6034	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGGGAGTGGATTGAGACA	0.443000														71			33		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64375232	64375232	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:64375232G>A	uc021qkw.1	-	22	5037	c.4575C>T	c.(4573-4575)acC>acT	p.T1525T	NRXN2_uc021qkx.1_Silent_p.T1455T|NRXN2_uc001oas.3_Silent_p.T1455T|NRXN2_uc001oao.3_Silent_p.T165T|NRXN2_uc001oap.3_Silent_p.T479T|NRXN2_uc001oaq.3_Silent_p.T1192T	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1525					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTGACAGGAGGGTGGTGCGGT	0.706000														2			3		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22694863	22694863	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:22694863G>A	uc010ajp.1	+	2	98	c.53_splice	c.e2-1	p.W18_splice	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc021rpw.1_Splice_Site					SubName: Full=HADV36S1; Flags: Fragment;																		TCTACACAGGGGTGAGCAGTG	0.448000														17			31		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287434	29287434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:29287434C>T	uc001usj.3	-	2	985	c.443G>A	c.(442-444)tGg>tAg	p.W148*	SLC46A3_uc001usg.3_Nonsense_Mutation_p.W73*|SLC46A3_uc001usi.3_Nonsense_Mutation_p.W148*|SLC46A3_uc001ush.3_Nonsense_Mutation_p.W148*|SLC46A3_uc001usk.3_Nonsense_Mutation_p.W73*	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	148					transmembrane transport	integral to membrane		p.F147S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GCAAGCTCCCCAAAATGTGGT	0.378000														19			24		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148891729	148891729	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:148891729G>A	uc009wkv.1	+	8		c.1031G>A								Homo sapiens cDNA, FLJ17483.																		TGGTGATATGGATGATAGTCG	0.348000														54			12		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726657	69726657	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:69726657C>T	uc002exm.2	+	11	3211	c.2875C>T	c.(2875-2877)Cct>Tct	p.P959S	NFAT5_uc002exj.2_Missense_Mutation_p.P883S|NFAT5_uc002exk.2_Missense_Mutation_p.P883S|NFAT5_uc002exl.2_Missense_Mutation_p.P977S|NFAT5_uc002exn.2_Missense_Mutation_p.P976S|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Missense_Mutation_p.P883S	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	959					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTCTCCTCCTGCAGTTTC	0.448000														40			25		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976118	20976118	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:20976118C>T	uc010vbe.2	-	52	9088	c.9088G>A	c.(9088-9090)Gac>Aac	p.D3030N	DNAH3_uc010vbd.2_Missense_Mutation_p.D465N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3030					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGACCTTGTCCTTACATTCA	0.527000														28			12		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107581983	107581983	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:107581983G>A	uc004bcl.3	-	21	3529	c.3125C>T	c.(3124-3126)tCt>tTt	p.S1042F		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1042	ABC transporter 1.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAAGGCCACAGATAGCTTTCT	0.547000														38			19		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71218807	71218807	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:71218807G>A	uc002ezr.3	-	2	373	c.222C>T	c.(220-222)atC>atT	p.I74I	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Silent_p.I74I|HYDIN_uc010vmc.2_Silent_p.I91I|HYDIN_uc010vmd.2_Silent_p.I101I|HYDIN_uc002ezw.4_Silent_p.I91I	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	74										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGTTCGATGATCTGTGGTC	0.468000														39			28		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134232832	134232832	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:134232832G>A	uc003yub.3	+	2	464	c.358G>A	c.(358-360)Ggt>Agt	p.G120S	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	120					Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGAGGTGGTCGGTGTGGGCTG	0.647000														46			30		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11023012	11023012	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:11023012C>T	uc003jfa.1	-	16	3013	c.2868G>A	c.(2866-2868)tcG>tcA	p.S956S	CTNND2_uc010itt.2_Silent_p.S865S|CTNND2_uc011cmy.1_Silent_p.S619S|CTNND2_uc011cmz.1_Silent_p.S523S|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.S548S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	956					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.S956S(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGTGTCATCCGACATGGCCT	0.517000														11			57		0	0	1	0	0
FAM46A	55603	broad.mit.edu	37	6	82459715	82459715	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:82459715G>A	uc003pjf.3	-	2	1396	c.1083C>T	c.(1081-1083)aaC>aaT	p.N361N	FAM46A_uc003pjg.3_Silent_p.N342N	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	Homo sapiens family with sequence similarity 46, member A (FAM46A), mRNA.	342										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CCACAAAGTGGTTCTGCAAAT	0.443000														20			11		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45850067	45850067	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:45850067G>A	uc010zxy.1	-	19	3418	c.3336C>T	c.(3334-3336)tcC>tcT	p.S1112S	ZMYND8_uc010ghq.1_Silent_p.S716S|ZMYND8_uc010ghr.1_Silent_p.S987S|ZMYND8_uc002xst.1_Silent_p.S967S|ZMYND8_uc002xsu.1_Silent_p.S958S|ZMYND8_uc002xsv.1_Silent_p.S1013S|ZMYND8_uc002xsw.1_Silent_p.S791S|ZMYND8_uc002xsx.1_Silent_p.S791S|ZMYND8_uc002xsy.1_Silent_p.S1014S|ZMYND8_uc002xsz.1_Silent_p.S976S|ZMYND8_uc002xta.1_Silent_p.S1085S|ZMYND8_uc002xtb.1_Silent_p.S1059S|ZMYND8_uc002xss.2_Silent_p.S1085S|ZMYND8_uc010zxz.1_Silent_p.S953S|ZMYND8_uc002xtc.1_Silent_p.S1059S|ZMYND8_uc002xtd.1_Silent_p.S1034S|ZMYND8_uc002xte.1_Silent_p.S1039S|ZMYND8_uc010zya.1_Silent_p.S1085S|ZMYND8_uc002xtf.1_Silent_p.S1105S|ZMYND8_uc002xsr.1_Silent_p.S184S	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	1085							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCCCCTGGGAGGACTTATTTA	0.537000														35			22		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188761	57188761	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:57188761C>T	uc010kzo.3	-	4	632	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTAATTTCTCATGTCCACAT	0.388000														28			37		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200015	128200015	+	Silent	SNP	T	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:128200015T>G	uc003ekm.3	-	6	1725	c.1290A>C	c.(1288-1290)gcA>gcC	p.A430A	GATA2_uc003ekn.3_Silent_p.A416A|GATA2_uc003eko.2_Silent_p.A430A	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	430					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CCAGGGCAGCTGCACTGAAGG	0.612000			Mis		AML(CML blast transformation)									20			27		0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	639262	639262	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:639262T>G	uc003jbf.3	+	7	1337	c.1265T>G	c.(1264-1266)cTc>cGc	p.L422R	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	422					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		p.A421V(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CAGGCGGCGCTCCTGGAGACG	0.642000														11			93		0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52682147	52682147	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:52682147C>T	uc001sab.3	-	3	783	c.733G>A	c.(733-735)Gag>Aag	p.E245K	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	245	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCGCACCTCCTCATACAGC	0.612000														35			39		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159682250	159682250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:159682250C>T	uc010kjv.3	+	18	5403	c.5203C>T	c.(5203-5205)Cct>Tct	p.P1735S		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1735	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCACAAAATCCTCATGGCTA	0.358000														23			10		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732545	152732545	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:152732545C>T	uc001fal.1	+	1	539	c.481C>T	c.(481-483)Cct>Tct	p.P161S	KPRP_uc021ozf.1_Missense_Mutation_p.P161S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	161	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTCCTCAGCCTGTCCAGAT	0.507000														136			22		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52549114	52549114	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:52549114G>A	uc001vfw.2	-	1	399	c.242C>T	c.(241-243)tCc>tTc	p.S81F	ATP7B_uc001vfy.2_Missense_Mutation_p.S81F|ATP7B_uc010adv.2_Missense_Mutation_p.S81F|ATP7B_uc001vfx.2_Missense_Mutation_p.S81F|ATP7B_uc010tgt.1_Missense_Mutation_p.S81F|ATP7B_uc010tgu.1_Missense_Mutation_p.S81F|ATP7B_uc010tgv.1_Missense_Mutation_p.S81F|ATP7B_uc010tgw.1_Missense_Mutation_p.S49F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	81	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TTTCAAATTGGAAATCCTGTC	0.517000									Wilson disease					28			38		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572876	142572876	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:142572876C>T	uc003wbx.2	-	8	1393	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	TRPV6_uc003wbw.1_Silent_p.G174G|TRPV6_uc010lou.1_Silent_p.G259G	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	388					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCACCAGCTCCCCGACCAGCC	0.562000														63			21		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73749080	73749080	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:73749080C>T	uc004ebt.2	+	4	1591	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	SLC16A2_uc010nlr.1_Intron	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	401						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	GCCTGATGTCCATGATGATTC	0.562000														2			16		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48130862	48130862	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:48130862A>T	uc002xut.3	-	6	980	c.926T>A	c.(925-927)gTc>gAc	p.V309D	PTGIS_uc010zyi.2_Missense_Mutation_p.V170D	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	309					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CTCTCCGCGGACAGCAGCCAG	0.582000														56			26		0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100468252	100468252	+	Missense_Mutation	SNP	C	T	T	rs17855370		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:100468252C>T	uc003uww.3	+	5	1056	c.886C>T	c.(886-888)Ctt>Ttt	p.L296F	TRIP6_uc010lhk.2_Missense_Mutation_p.L30F|TRIP6_uc022aiv.1_Missense_Mutation_p.L275F|TRIP6_uc022ait.1_Missense_Mutation_p.L30F|TRIP6_uc022aiu.1_Missense_Mutation_p.L30F	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	296	LIM zinc-binding 1.		L -> F (in dbSNP:rs17855370).		focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	p.A295T(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTTGTGGCCCTTGATCGCGT	0.587000														26			34		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120373196	120373196	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:120373196G>A	uc002tmb.3	+	14	1575	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	PCDP1_uc010yyq.2_Missense_Mutation_p.E285K	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	441						cilium	calmodulin binding					Colorectal(110;0.196)					GAAAATCAAGGAATTTCATCC	0.343000														6			9		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38795982	38795982	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:38795982G>A	uc021yzh.1	+	29	4215	c.4106G>A	c.(4105-4107)aGa>aAa	p.R1369K	DNAH8_uc003ooe.2_Missense_Mutation_p.R1152K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTTTAAACAGATTTGAAGTT	0.358000														24			36		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902542	52902542	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:52902542G>A	uc010ugf.2	-	4	724	c.590C>T	c.(589-591)tCa>tTa	p.S197L	FAM214A_uc002acg.4_Missense_Mutation_p.S190L|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.S102L	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	190																	TGGAGTCTGTGAAAAATTCCA	0.368000														9			43		0	0	1	0	0
MALSU1	115416	broad.mit.edu	37	7	23339025	23339025	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:23339025G>A	uc003swd.1	+	0	86	c.54G>A	c.(52-54)agG>agA	p.R18R		NM_138446	NP_612455	Q96EH3	CG030_HUMAN	Homo sapiens chromosome 7 open reading frame 30 (C7orf30), mRNA.	18						mitochondrion											TGTGGCGCAGGGCGGTTTCCT	0.721000														10			6		0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26900845	26900845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:26900845C>T	uc002hbp.3	-	7	1052	c.907G>A	c.(907-909)Ggg>Agg	p.G303R	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank	NM_005165	NP_005156	P09972	ALDOC_HUMAN	Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.	303					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AGGGCACGCCCATAGGAGAAG	0.612000														19			79		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578865	141578865	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:141578865G>A	uc010ioj.3	-	11	2295	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	675	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding	p.S674S(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AACCAAGACAGGGAGATGGTG	0.478000														40			50		0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300012	23300012	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:23300012G>A	uc001yvq.2	-	3		c.1493C>T			HERC2P2_uc001yvo.4_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		GCTGCACCACGATCGGCAGAG	0.602000														1			10		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20380832	20380832	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:20380832G>A	uc002dhc.1	-	7	1321	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	366					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.S365C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTTACTCAGGAAGCTGCGGC	0.428000														81			64		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488115	108488115	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:108488115G>A	uc010ywk.2	+	19	3737	c.3655G>A	c.(3655-3657)Gaa>Aaa	p.E1219K	RGPD4_uc002tdu.3_Missense_Mutation_p.E406K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1219					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGTCACTGAGGAAGAAAATAA	0.423000														49			86		0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61145543	61145543	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:61145543C>T	uc002sam.1	+	6	879	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	REL_uc002san.1_Missense_Mutation_p.R219C	NM_002908	NP_002899	Q04864	REL_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian) (REL), mRNA.	219	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CATAGAAGTTCGTTTTGTGTT	0.323000			A		Hodgkin Lymphoma									50			24		0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761399	150761399	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:150761399C>T	uc022apz.1	+	2	1202	c.162C>T	c.(160-162)gcC>gcT	p.A54A	SLC4A2_uc003wit.4_Silent_p.A54A|SLC4A2_uc011kve.2_Silent_p.A45A|SLC4A2_uc003wiu.4_Silent_p.A40A	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	54	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACAGGAGGCCGGGTCTCGTG	0.662000														17			14		0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91977196	91977196	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:91977196G>A	uc001doe.3	+	4	543	c.378G>A	c.(376-378)aaG>aaA	p.K126K	CDC7_uc001dof.3_Silent_p.K126K|CDC7_uc010osw.2_Silent_p.K98K|CDC7_uc009wdc.3_Silent_p.K126K	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	126	Protein kinase.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GCTTTAGGAAGAATGATCATG	0.338000														36			94		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599163	31599164	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:31599163_31599164GG>AA	uc003nvb.4	+	15	2962_2963	c.2713_2714GG>AA	c.(2713-2715)gga>AAa	p.G905K	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.G905K	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	905	4 X 57 AA type A repeats.			PARGVGSGGQ -> LPASRSGA (in Ref. 1; AAA35585/AAA35586 and 8; CAA78744).		cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCCTGCCCGCGGAGTCGGGAGT	0.653000														25			11		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187444628	187444628	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:187444628G>A	uc003frp.3	-	6	2056	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Intron|BCL6_uc010hza.2_Silent_p.L431L|BCL6_uc003frq.2_Silent_p.L533L	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	533					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTGCCTCTTGAGTGAGGCCT	0.597000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									42			16		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768733	117768733	+	Missense_Mutation	SNP	G	A	A	rs80348085		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:117768733G>A	uc001twn.2	-	1	853	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	NOS1_uc001twm.2_Missense_Mutation_p.R48C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	48	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R48C(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCGCCCCCACGAATCAGGTCA	0.597000														42			20		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17397977	17397977	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:17397977C>T	uc001baf.3	-	13	1641	c.1559G>A	c.(1558-1560)gGg>gAg	p.G520E	PADI2_uc010ocm.2_Missense_Mutation_p.G404E	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	520					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GCTGCTCATCCCACCCAAGCC	0.562000														14			47		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282528	52282528	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:52282528C>T	uc001rzd.3	+	1	500	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	ANKRD33_uc001rzh.4_Missense_Mutation_p.P108S|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCACAATGATCCCACCCAGCT	0.642000														46			23		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433642	40433642	+	Silent	SNP	G	A	A	rs138162470	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:40433642G>A	uc002omp.4	-	1	635	c.627C>T	c.(625-627)ctC>ctT	p.L209L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	209	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGACCCCGAGAGATCCACTG	0.552000														57			24		0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202154184	202154184	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:202154184G>A	uc010ftg.3	-	13	1651	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L	ALS2CR12_uc002uya.4_Silent_p.L380L|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	403					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CCGCACTTCAGATGAATGTTC	0.433000														77			20		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855850	12855850	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:12855850C>T	uc001auj.2	+	3	1233	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	377										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCGGTGCTCCCAGCTCACC	0.557000														32			5		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20738086	20738086	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:20738086G>A	uc010kuh.3	+	16	2304	c.2067G>A	c.(2065-2067)tgG>tgA	p.W689*	ABCB5_uc003suw.4_Nonsense_Mutation_p.W244*	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	244	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma 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						AGCCTGAATGGCCTTTTGTGG	0.318000														25			28		0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897599	130897599	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:130897599G>A	uc010yzw.1	-	4	1997	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	CCDC74B_uc002tqm.1_Missense_Mutation_p.P316L|CCDC74B_uc002tqn.1_Missense_Mutation_p.P250L			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	316										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CACTCACCTGGGAAAGCTAGC	0.647000														17			48		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261735	1261735	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:1261735T>G	uc002cks.3	+	23	4744	c.4496T>G	c.(4495-4497)gTg>gGg	p.V1499G	CACNA1H_uc002ckt.3_Missense_Mutation_p.V1499G|CACNA1H_uc002cku.3_Missense_Mutation_p.V205G|CACNA1H_uc010brj.3_Missense_Mutation_p.V205G|CACNA1H_uc002ckv.3_Missense_Mutation_p.V205G	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1499					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCGCTGTTCGTGCTGTCATCC	0.657000														43			23		0	0	1	0	0
RPL17-C18ORF32	100526842	broad.mit.edu	37	18	47016828	47016828	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:47016828A>C	uc002ldm.2	-	3	324	c.311T>G	c.(310-312)cTt>cGt	p.L104R	RPL17-C18ORF32_uc021ujt.1_Missense_Mutation_p.L66R|RPL17-C18ORF32_uc021ujv.1_Missense_Mutation_p.L104R|RPL17-C18ORF32_uc021ujw.1_Missense_Mutation_p.L104R|RPL17-C18ORF32_uc021ujx.1_Missense_Mutation_p.L104R|RPL17-C18ORF32_uc021ujy.1_Missense_Mutation_p.L104R|RPL17-C18ORF32_uc002ldq.3_Missense_Mutation_p.L104R|RPL17-C18ORF32_uc010xdg.2_Missense_Mutation_p.L66R|RPL17-C18ORF32_uc002ldp.3_Missense_Mutation_p.L104R|RPL17-C18ORF32_uc021ujz.1_Missense_Mutation_p.L104R|SNORD58C_uc002ldr.2_5'Flank	NM_001199355	NP_001186284			Homo sapiens RPL17-C18orf32 readthrough (RPL17-C18ORF32), transcript variant 1, mRNA.																		GGGTACCTTAAGTTCAGCATT	0.418000														39			32		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48920005	48920005	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:48920005C>T	uc010slu.2	+	0	591	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GAAGCCTCATCGCCTTGCTCT	0.473000														31			17		0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814883	54814883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:54814883G>A	uc002lgm.3	+	0	591	c.340G>A	c.(340-342)Gct>Act	p.A114T						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		GAGGTCAGAAGCTGGAGTGGA	0.488000														21			14		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9968508	9968508	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9968508G>A	uc002mmp.3	-	2	271	c.243C>T	c.(241-243)gtC>gtT	p.V81V		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	81						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCAACTCAAGGACCTCCATGG	0.602000														35			8		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48691182	48691182	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:48691182G>A	uc003xqi.3	-	83	11745	c.11688C>T	c.(11686-11688)ttC>ttT	p.F3896F	PRKDC_uc003xqj.3_Silent_p.F3865F	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3897	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.E3895K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGAGCGCCAGGAAAGCCTCAG	0.567000								Non-homologous end-joining						13			8		0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077335	95077335	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:95077335C>T	uc022bjx.1	-	6	1909	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Silent_p.K456K	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	524					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTGGGGCTCTTGGAGCCTC	0.527000														40			5		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477394	88477394	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:88477394C>T	uc021rxh.1	+	0	203	c.203C>T	c.(202-204)cCt>cTt	p.P68L	GPR65_uc001xvv.3_Missense_Mutation_p.P68L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	68					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTAACTCTCCCTTTATGGATT	0.393000														56			85		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76503639	76503639	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:76503639G>A	uc010dhp.2	-	27	4610	c.4485C>T	c.(4483-4485)acC>acT	p.T1495T		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTGGCTCCAGGTTCGCTGGA	0.597000														6			19		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36269561	36269561	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:36269561C>T	uc011cow.2	-	3	692	c.199G>A	c.(199-201)Ggt>Agt	p.G67S	RANBP3L_uc003jkh.3_Missense_Mutation_p.G67S	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	67					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GTTGGAAAACCATTACATTCT	0.353000														10			31		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27880848	27880848	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:27880848C>G	uc003xgm.4	-	18	2520	c.2377G>C	c.(2377-2379)Ggg>Cgg	p.G793R		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	793						nucleus	GTP binding|GTPase activity	p.P792P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		AGTGATGTCCCGGGGGGGCCA	0.527000														13			16		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23234557	23234557	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:23234557C>T	uc009vqj.1	+	11	2393	c.2248C>T	c.(2248-2250)Cgc>Tgc	p.R750C	EPHB2_uc001bge.3_Missense_Mutation_p.R751C|EPHB2_uc001bgf.3_Missense_Mutation_p.R750C|EPHB2_uc010odu.2_Missense_Mutation_p.R692C	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	750	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTGGCTGCCCGCAACATCCT	0.572000														120			18		0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111385544	111385544	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:111385544G>A	uc009yyd.3	+	0	35	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	BTG4_uc001plj.3_5'Flank|BTG4_uc001plk.3_5'Flank|C11orf88_uc001plo.1_Missense_Mutation_p.R12Q|C11orf88_uc001pln.4_Missense_Mutation_p.R12Q	NM_207430	NP_997313	Q6PI97	CK088_HUMAN	Homo sapiens chromosome 11 open reading frame 88 (C11orf88), transcript variant 1, mRNA.	12										endometrium(1)|large_intestine(3)|lung(2)	6						CCTAGCGGCCGAAAAGAGTCC	0.627000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			21		0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163000606	163000606	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:163000606T>C	uc002ucc.3	-	4	723	c.467A>G	c.(466-468)aAc>aGc	p.N156S		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	156					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AAGAATGGTGTTCATCTCATC	0.398000														44			9		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26026306	26026306	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:26026306G>A	uc010ayu.3	-	1	620	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	172					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCGTTGCAGCGAAGACGCACA	0.493000														7			35		0	0	1	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32844175	32844175	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:32844175G>A	uc002kyl.3	-	2	598	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	ZNF397_uc010dmr.3_Intron|ZSCAN30_uc002kym.3_Missense_Mutation_p.R48W|ZSCAN30_uc002kyn.1_Missense_Mutation_p.R48W	NM_001166012	NP_001159484	Q86W11	ZSC30_HUMAN	Homo sapiens zinc finger and SCAN domain containing 30 (ZSCAN30), mRNA.	48	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						AACTTCTGCCGGAATACCTCT	0.522000														21			17		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339780	55339780	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:55339780C>T	uc010rih.2	+	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CAATGTTCTTCTTCCTTTTCT	0.388000														49			46		0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158362460	158362460	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:158362460G>A	uc003fce.3	+	0	144	c.37G>A	c.(37-39)Ggg>Agg	p.G13R	GFM1_uc003fcd.3_Missense_Mutation_p.G13R|GFM1_uc003fcg.3_5'Flank	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	13					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGCGGCTCTGGGGCGCGGAAG	0.657000											OREG0015898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			3		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687295	27687295	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:27687295G>A	uc001itu.2	-	3	2350	c.2232C>T	c.(2230-2232)atC>atT	p.I744I		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	744					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGAAGAAATGATTTCATTTG	0.308000														2			21		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215855595	215855595	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:215855595G>A	uc002vew.3	-	23	3675	c.3455C>T	c.(3454-3456)tCg>tTg	p.S1152L	ABCA12_uc002vev.3_Missense_Mutation_p.S834L|ABCA12_uc010zjn.2_Missense_Mutation_p.S79L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1152					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCTGTAGTCCGAAAAATACAG	0.388000														69			8		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187146	98187146	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:98187146G>A	uc001drv.3	-	4	540	c.403C>T	c.(403-405)Ctt>Ttt	p.L135F	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.L135F	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	135					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCTACACAAAGATCAGAGGTT	0.388000														27			83		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189013033	189013033	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:189013033T>C	uc011cle.1	-	7	1105	c.883A>G	c.(883-885)Act>Gct	p.T295A	TRIML2_uc003izj.1_Missense_Mutation_p.T48A|TRIML2_uc003izk.1_Missense_Mutation_p.T28A|TRIML2_uc003izl.2_Missense_Mutation_p.T220A	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	220	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AATCTCATAGTTCTCAGGTCC	0.512000														33			40		0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512858	68512858	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:68512858C>T	uc021ooq.1	-	0	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Silent_p.V41V	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	41					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCCGACTACCACGACGCGGT	0.582000														46			110		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582510	179582510	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:179582510C>T	uc021vsy.1	-	83	21584	c.21359G>A	c.(21358-21360)aGa>aAa	p.R7120K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3781K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8047	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGTTTTCTTGCAAAGAA	0.413000														27			8		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185018424	185018424	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:185018424C>T	uc003iwc.3	-	6	1233	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	364					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GAAGATGCCCCGCATGTCCAT	0.592000														30			41		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28766121	28766121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:28766121C>T	uc002rmb.2	+	13	966	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	PLB1_uc010ezj.2_Missense_Mutation_p.L319F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	308	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GGCCTGGCATCTCTGGAATAG	0.612000														4			13		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564346	61564346	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:61564346C>T	uc010xeu.2	+	4	643	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	SERPINB2_uc002ljo.3_Missense_Mutation_p.H104Y|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	104					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGATAAAATCCATTCATCCTT	0.378000														44			19		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3712680	3712680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:3712680G>A	uc001lyh.3	-	27	4772	c.4351C>T	c.(4351-4353)Cct>Tct	p.P1451S	NUP98_uc001lyi.3_Missense_Mutation_p.P1451S|NUP98_uc001lyg.3_Missense_Mutation_p.P416S	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1468					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity	p.P1451S(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGATACGAAGGAAGTGGGGAG	0.428000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									22			5		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657810	49657810	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:49657810C>T	uc002pmv.3	-	0	872	c.685G>A	c.(685-687)Gat>Aat	p.D229N		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	229	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGTGTCCATCTGAGACATCC	0.537000														9			11		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079206	1079206	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:1079206G>A	uc002qwq.3	+	1	204	c.75G>A	c.(73-75)acG>acA	p.T25T	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Silent_p.T25T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	25					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.T25T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCCTACAGACGAAAACCACTA	0.478000														24			42		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186943126	186943126	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:186943126C>T	uc003frh.2	-	12	2117	c.1727G>A	c.(1726-1728)gGa>gAa	p.G576E		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	576	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.E575Q(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTGCTGGGGTCCCTCAGGCAG	0.572000														44			15		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389234	4389234	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:4389234G>A	uc010qye.2	-	0	383	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGATGCAACGATCCAGGGAG	0.527000														21			8		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	336826	336826	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:336826C>T	uc001qic.2	-	7	930	c.840G>A	c.(838-840)atG>atA	p.M280I	SLC6A13_uc009zdj.2_Missense_Mutation_p.M280I|SLC6A13_uc010sdl.2_Missense_Mutation_p.M188I|SLC6A13_uc010sdm.1_Missense_Mutation_p.M161I	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	280					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGCCTGCATCCATCCACACCT	0.552000														19			5		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304502	47304502	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:47304502C>T	uc001ner.1	+	9	2035	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	MADD_uc001neq.2_Missense_Mutation_p.S615F|MADD_uc001nev.1_Missense_Mutation_p.S615F|MADD_uc001nes.1_Missense_Mutation_p.S615F|MADD_uc001net.1_Missense_Mutation_p.S615F|MADD_uc009yln.1_Missense_Mutation_p.S615F|MADD_uc001neu.1_Missense_Mutation_p.S615F|MADD_uc001nez.2_Missense_Mutation_p.S615F|MADD_uc001new.2_Missense_Mutation_p.S615F|MADD_uc001nex.2_Missense_Mutation_p.S615F	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	615					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GACTCTGACTCCGAACCTACT	0.517000														28			25		0	0	1	0	0
IMP4	92856	broad.mit.edu	37	2	131103602	131103602	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:131103602C>T	uc002tra.1	+	6	623	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	Homo sapiens IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) (IMP4), mRNA.	202	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	ATP binding|aminoacyl-tRNA ligase activity|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					TCTCTGACATCCTCCGATACC	0.597000														53			33		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045344	40045344	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:40045344G>A	uc011byr.1	-	2	806	c.312C>T	c.(310-312)ttC>ttT	p.F104F						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		GCTCCTGCCGGAAATACACAA	0.592000														17			10		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3213790	3213790	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:3213790C>T	uc021xkv.1	+	47	6694	c.6549C>T	c.(6547-6549)ctC>ctT	p.L2183L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2183					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGCAGCAGCTCCCTGCTGTCC	0.532000														22			23		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427865	135427865	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:135427865C>T	uc004ezu.1	+	5	2291	c.2000C>T	c.(1999-2001)tCt>tTt	p.S667F	GPR112_uc010nsb.1_Missense_Mutation_p.S462F|GPR112_uc010nsc.1_Missense_Mutation_p.S434F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	667					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGCTGGCATCTATGAACACA	0.443000														8			50		0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159192345	159192345	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:159192345G>A	uc003qrt.4	-	7	1105	c.890C>T	c.(889-891)cCt>cTt	p.P297L	EZR_uc011efr.2_5'Flank|EZR_uc011efs.2_Missense_Mutation_p.P265L|EZR_uc003qru.4_Missense_Mutation_p.P297L	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	297	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GATGGTGTCAGGCTTCCTGCG	0.592000			T	ROS1	NSCLC									22			36		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432834	104432834	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:104432834G>A	uc004bbp.2	-	2	2461	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	GRIN3A_uc004bbq.1_Silent_p.L620L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	620					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCCCTCTCAGGAGATCACCCA	0.498000														32			11		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666634	57666634	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:57666634C>T	uc002qoa.1	-	5	589	c.544_splice	c.e5+1	p.G182_splice		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		AGGCTAGTTACCTTGCAGTCC	0.512000														18			7		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056908	120056908	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:120056908C>T	uc001ehv.1	+	3	907	c.762C>T	c.(760-762)taC>taT	p.Y254Y		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	254					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GACAGTTCTACTATATCTCAG	0.522000														29			88		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3656499	3656499	+	Silent	SNP	G	A	A	rs144166425		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:3656499G>A	uc002lyj.2	-	5	614	c.525C>T	c.(523-525)tcC>tcT	p.S175S	PIP5K1C_uc010xhq.2_Silent_p.S175S|PIP5K1C_uc010xhr.2_Silent_p.S175S	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	175	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CGTAGAAGAGGGAGCCACTGG	0.622000														51			18		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35624458	35624458	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:35624458G>A	uc003xjr.2	+	14	2680	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q	UNC5D_uc003xjs.2_Silent_p.Q779Q|UNC5D_uc003xju.2_Silent_p.Q360Q	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	784					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTAACCGGCAGCCCCTGCACT	0.587000														24			19		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30068238	30068238	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:30068238G>A	uc001wqh.3	-	14	2342	c.2161C>T	c.(2161-2163)Cct>Tct	p.P721S	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	721	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTTGCCTGAGGAAAAGGATCA	0.423000														91			4		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112707633	112707633	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:112707633G>A	uc021reb.1	-	12	2160	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	C12orf51_uc010syk.1_Silent_p.F123F|C12orf51_uc001tts.2_Silent_p.F123F|C12orf51_uc001ttt.3_Silent_p.F123F	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TTTGTGGGCTGAAGAAAAATT	0.378000														16			9		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905119	55905119	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:55905119G>A	uc010riz.2	-	0	76	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGGAAGAGGGGAATCTGGAGC	0.493000														53			18		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395465	76395465	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:76395465C>T	uc021rkq.1	+	13	2695	c.2360C>T	c.(2359-2361)cCt>cTt	p.P787L	LMO7_uc010thv.2_Missense_Mutation_p.P505L|LMO7_uc001vjt.1_Missense_Mutation_p.P453L|LMO7_uc001vjv.3_Missense_Mutation_p.P554L|LMO7_uc010thw.2_Missense_Mutation_p.P404L|LMO7_uc001vjw.1_Missense_Mutation_p.P460L	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	839						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCAACTTATCCTTCAGAAATT	0.433000														19			13		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43809080	43809080	+	Missense_Mutation	SNP	C	T	T	rs143762350		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:43809080C>T	uc002zbb.2	-	3	481	c.280G>A	c.(280-282)Gga>Aga	p.G94R	TMPRSS3_uc002zaz.2_5'UTR|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.G94R|TMPRSS3_uc002zbd.3_Missense_Mutation_p.G94R	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	94	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCCGAGACTCCGTCACATCGA	0.537000														25			15		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142607685	142607685	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:142607685G>A	uc003evd.3	-	0	361	c.54C>T	c.(52-54)acC>acT	p.T18T		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	18						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCGAGAGCTGGGTGGCGGCAG	0.721000														6			7		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139118626	139118626	+	Silent	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:139118626G>T	uc010nbi.2	-	1	461	c.423C>A	c.(421-423)acC>acA	p.T141T		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	141	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCACCCGGAAGGTGGGGTAGA	0.562000											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			34		6.02846e-25	6.13865e-25	1	1	0
KCNA5	3741	broad.mit.edu	37	12	5154927	5154927	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:5154927G>A	uc001qni.3	+	0	1843	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	538						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TTAAGGAAGAGCAGGGCACTC	0.627000														23			12		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44869733	44869733	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:44869733C>T	uc002xrm.2	-	1	818	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	CDH22_uc010ghk.1_Missense_Mutation_p.R140Q	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	140	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCGCGATCCCGAGCCTGGGC	0.617000														38			80		0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101182969	101182969	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:101182969C>T	uc002tao.2	+	1	123	c.11C>T	c.(10-12)cCc>cTc	p.P4L		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	Homo sapiens phosducin-like 3 (PDCL3), mRNA.	4					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTCTAGGACCCCAACGCAGAC	0.507000														50			12		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33499063	33499063	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:33499063G>A	uc002nuf.3	-	6	683	c.617C>T	c.(616-618)cCg>cTg	p.P206L	RHPN2_uc010xro.2_Missense_Mutation_p.P55L|RHPN2_uc002nue.3_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	206	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CTGGCTGACCGGAACCCCGGT	0.498000														11			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106494423	106494423	+	RNA	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:106494423C>T	uc021ser.1	-	2337		c.41229G>A								Parts of antibodies, mostly variable regions.																		CAGACTCCTTCAAGGTGATCT	0.532000														24			8		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55912352	55912352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:55912352C>T	uc003tqz.2	-	3	352	c.235G>A	c.(235-237)Gat>Aat	p.D79N		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	79					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GATTTGTTATCTTTCAAGTTA	0.358000														20			30		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692623	20692623	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:20692623G>A	uc010tlc.2	+	0	755	c.755G>A	c.(754-756)cGa>cAa	p.R252Q		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GGTGCTGGTCGAACTAAAGCT	0.483000														39			16		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298474	107298474	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:107298474G>A	uc004bcb.1	-	0	621	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTTCACATGCGAAATGATTGA	0.428000														35			31		0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136513099	136513099	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:136513099C>T	uc004cel.3	+	5	1165	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	386					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CGCCTTCATCCTCACTGGCTA	0.657000														10			10		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339976	36339976	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:36339976G>A	uc002oby.3	-	7	1070	c.914C>T	c.(913-915)aCc>aTc	p.T305I		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	305	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.T305T(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCCTCACGGTCATCACCAG	0.662000														47			17		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107719106	107719106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:107719106C>T	uc011lht.2	+	7	1459	c.1360C>T	c.(1360-1362)Ctt>Ttt	p.L454F	OXR1_uc022azp.1_Missense_Mutation_p.L453F|OXR1_uc003ymf.3_Missense_Mutation_p.L453F|OXR1_uc011lhu.2_Missense_Mutation_p.L446F|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.L151F|OXR1_uc003ymg.1_Missense_Mutation_p.L386F|OXR1_uc003ymi.1_Missense_Mutation_p.L365F	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	454					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GGATTCTTTTCTTCATGAGAA	0.358000														34			17		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32774474	32774474	+	Missense_Mutation	SNP	C	T	T	rs11540648		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:32774474C>T	uc010ezu.3	+	64	13204	c.13070C>T	c.(13069-13071)cCt>cTt	p.P4357L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4357					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATGCCCTTCCTTCTGTACTT	0.443000														47			32		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363594	56363594	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:56363594G>A	uc002qmd.4	+	1	570	c.148G>A	c.(148-150)Gca>Aca	p.A50T		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	50	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGTCAAAAAAGCATCCCGGGA	0.403000														19			18		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39373938	39373938	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:39373938C>T	uc010hhr.2	+	1	254	c.116C>T	c.(115-117)gCt>gTt	p.A39V	CCR8_uc003cjm.2_Intron|CCR8_uc021wwe.1_Missense_Mutation_p.A39V	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	39					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TTGCTCCTTGCTGTCTTTTAT	0.478000														35			42		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847742	123847742	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:123847742G>A	uc001pzm.1	-	0	657	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGCAGCCACGATGCCAATGC	0.562000														23			21		0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104394720	104394720	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:104394720A>G	uc003ylk.3	+	3	723	c.624A>G	c.(622-624)ttA>ttG	p.L208L		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	208						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GTGCTGGATTAGTGGATGTTG	0.373000														83			79		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45960844	45960844	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:45960844G>A	uc003bgi.1	+	14	1925	c.1778G>A	c.(1777-1779)gGg>gAg	p.G593E	FBLN1_uc003bgj.1_Intron	NM_006485	NP_006476	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant B, mRNA.	0					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGGAAGCAGGGGTTGGAGGAT	0.552000														12			16		0	0	1	0	0
ACOT7	11332	broad.mit.edu	37	1	6387469	6387469	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:6387469G>A	uc001ams.3	-	4	702	c.545C>T	c.(544-546)tCc>tTc	p.S182F	ACOT7_uc001amt.3_Missense_Mutation_p.S172F|ACOT7_uc001amu.3_Non-coding_Transcript|ACOT7_uc001amq.3_Missense_Mutation_p.S131F|ACOT7_uc001amr.3_Missense_Mutation_p.S152F	NM_181864	NP_863654	O00154	BACH_HUMAN	Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHb, mRNA.	182						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CTCCTGCCGGGAATACTGCGA	0.627000														16			25		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145834772	145834772	+	Silent	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:145834772T>A	uc003lob.3	+	1	253	c.213T>A	c.(211-213)ccT>ccA	p.P71P	TCERG1_uc003loc.3_Silent_p.P71P|TCERG1_uc011dbt.2_Silent_p.P71P	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	71	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGTCCTCCTTTTGATCCTA	0.572000														31			63		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501248	90501248	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:90501248C>T	uc004app.4	+	3	1881	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	FAM75E1_uc004apo.1_Missense_Mutation_p.P428S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	616						integral to membrane											CCCCATCCTTCCCGGGGTTGT	0.632000														39			27		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148597581	148597581	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:148597581G>A	uc003ewm.3	+	5	533	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	161					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATAGATTGGGGAAAAGAATGA	0.373000														38			6		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3000675	3000675	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:3000675C>T	uc010dth.3	-	18	2360	c.2097G>A	c.(2095-2097)tgG>tgA	p.W699*	TLE2_uc010xhb.2_Nonsense_Mutation_p.W365*|TLE2_uc002lww.3_Nonsense_Mutation_p.W698*|TLE2_uc010xhc.2_Nonsense_Mutation_p.W576*|TLE2_uc010dti.3_Intron	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	698					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCGTCCTCCAGGCGTTGA	0.642000														1			6		0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14991802	14991802	+	Silent	SNP	C	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:14991802C>G	uc010xob.2	-	0	366	c.366G>C	c.(364-366)cgG>cgC	p.R122R		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGGCCACAAACCGATCATAGG	0.507000														29			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067233	9067233	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9067233C>T	uc002mkp.3	-	2	20417	c.20213G>A	c.(20212-20214)cGa>cAa	p.R6738Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6740	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCTGTTCGAGTGATGAT	0.502000														113			33		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543494	28543494	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:28543494A>G	uc003nlo.3	-	2	1606	c.988T>C	c.(988-990)Tta>Cta	p.L330L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	330					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTCGCTTGTAACTCTTTCTCC	0.373000														62			101		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55989061	55989061	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:55989061G>A	uc003pcs.3	-	14	1912	c.1680C>T	c.(1678-1680)ggC>ggT	p.G560G	COL21A1_uc010jzz.3_5'UTR|COL21A1_uc011dxg.2_5'UTR|COL21A1_uc011dxh.2_5'UTR	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	560	Collagen-like 2.		G -> S (in dbSNP:rs9382581).		cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGCCAGGGAAGCCAGCATTCC	0.348000														4			4		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694173	129694173	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:129694173C>T	uc009zyl.1	-	4	1663	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	445						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCACCGTCTTCCCCGTGAGGA	0.587000														25			17		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182521722	182521722	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:182521722C>T	uc002unx.3	-	0	113	c.12G>A	c.(10-12)agG>agA	p.R4R	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Silent_p.R4R|CERKL_uc010zfm.2_Silent_p.R4R|CERKL_uc002unz.3_5'UTR|CERKL_uc002uoa.3_Silent_p.R4R|CERKL_uc002uob.3_5'UTR|CERKL_uc002uoc.3_Silent_p.R4R|CERKL_uc021vth.1_5'UTR|CERKL_uc021vti.1_5'UTR|CERKL_uc021vtj.1_5'UTR|CERKL_uc021vtk.1_5'UTR|CERKL_uc021vtl.1_5'UTR|CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|CERKL_uc002uoe.3_Silent_p.R4R	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	4					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCCTGCGCCTCCTCCAGGGCA	0.746000														11			9		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060034	111060034	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:111060034T>C	uc001dzt.1	-	0	1764	c.1376A>G	c.(1375-1377)aAc>aGc	p.N459S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	459						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GTAATTGAAGTTGGAGACAAT	0.522000														9			36		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175418	143175418	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:143175418G>A	uc003wdc.1	+	0	453	c.453G>A	c.(451-453)gtG>gtA	p.V151V	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	151					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.V151L(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTTTTTGGGTGAACTACCCTG	0.448000														26			8		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052778	17052778	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:17052778C>T	uc011awc.2	+	2	2012	c.1916C>T	c.(1915-1917)tCc>tTc	p.S639F	PLCL2_uc011awd.2_Missense_Mutation_p.S521F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	647	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAAGTCTGTTCCTTTAATGAA	0.413000														45			38		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5848555	5848555	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:5848555G>A	uc001qnm.2	-	12	1422	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	455						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTTTTCCAGGAACATGGTAG	0.438000														8			4		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225729787	225729787	+	Silent	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:225729787C>A	uc010fwz.1	-	11	1514	c.1275G>T	c.(1273-1275)gtG>gtT	p.V425V	DOCK10_uc002vob.2_Silent_p.V419V|DOCK10_uc002vod.1_Silent_p.V425V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	425							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTGCCACACTCACAAAAAAAG	0.393000														84			20		3.5997e-14	3.65043e-14	1	1	0
RGS22	26166	broad.mit.edu	37	8	101092508	101092508	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:101092508C>T	uc003yjb.1	-	3	388	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.E65K|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_5'UTR	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	65					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGTTGTTTTTCCAGAAATTGT	0.323000														20			14		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560399	101560399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:101560399G>A	uc001thz.4	-	11	1789	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	467					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTTCTCTCAGGAAGTGGAGGA	0.418000														22			7		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306447	2306447	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:2306447G>A	uc003gex.2	-	7	1940	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	ZFYVE28_uc011bvk.2_Silent_p.P470P|ZFYVE28_uc011bvl.2_Silent_p.P510P|ZFYVE28_uc003gew.2_Silent_p.P426P	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	540					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCGGCCACGGGCTCCGAGG	0.662000														34			11		0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57896098	57896098	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:57896098A>G	uc002yap.3	+	2	761	c.392A>G	c.(391-393)aAc>aGc	p.N131S	EDN3_uc002yao.1_Missense_Mutation_p.N131S|EDN3_uc002yaq.3_Missense_Mutation_p.N131S|EDN3_uc002yar.3_Missense_Mutation_p.N131S|EDN3_uc002yas.3_Missense_Mutation_p.N131S	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	131					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.N131K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GGACTGTCCAACTACAGAGGA	0.617000														67			26		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846406	43846406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:43846406C>T	uc010skx.2	-	12	1853	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	618	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCTTCTCTCGAAAGTCTTG	0.423000														20			6		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800177	27800177	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:27800177G>A	uc002rkz.4	+	0	789	c.738G>A	c.(736-738)aaG>aaA	p.K246K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	246										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCGAGTTAAGGATGTGGGGG	0.433000														36			64		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16302617	16302617	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:16302617C>T	uc002den.4	-	6	799	c.762G>A	c.(760-762)aaG>aaA	p.K254K	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.K266K	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	254					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCATCCACTCCTTTTCAAGCC	0.552000														41			34		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423835	47423835	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:47423835G>T	uc002zhu.1	+	34	3097	c.2995G>T	c.(2995-2997)Ggc>Tgc	p.G999C	COL6A1_uc002zhv.1_Missense_Mutation_p.G330C	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	999	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGTGGCCTACGGCGAGAGCCA	0.662000														49			22		1.10513e-12	1.11939e-12	1	1	0
KIF1A	547	broad.mit.edu	37	2	241697798	241697798	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:241697798G>A	uc010fzk.3	-	25	2808	c.2561C>T	c.(2560-2562)cCc>cTc	p.P854L	KIF1A_uc002vzy.3_Missense_Mutation_p.P845L|KIF1A_uc002vzz.2_Missense_Mutation_p.P854L	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	845					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.F854F(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGGAACCAGGGGAAGCGGTC	0.637000														9			25		0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134072357	134072357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:134072357G>A	uc011ljd.2	-	0	247	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Missense_Mutation_p.P17S|SLA_uc011lje.2_Missense_Mutation_p.P34S|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Missense_Mutation_p.P34S|SLA_uc010mdy.1_Missense_Mutation_p.P17S|SLA_uc010mdz.1_Missense_Mutation_p.P17S|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	17	SH3.					endosome	SH3/SH2 adaptor activity	p.P17T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TCCGGGTTGGGCAGGGGCCTC	0.577000														176			74		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30978285	30978285	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:30978285C>T	uc002ead.1	+	8	3272	c.2586C>T	c.(2584-2586)tcC>tcT	p.S862S		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	862					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTGCTGTCCCTCGTGGACT	0.627000														6			4		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893772	16893772	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:16893772G>A	uc009vos.1	-	24	3629	c.2741C>T	c.(2740-2742)cCt>cTt	p.P914L	NBPF1_uc009vot.1_Missense_Mutation_p.P372L|NBPF1_uc001ayz.1_Missense_Mutation_p.P372L|NBPF1_uc010oce.1_Missense_Mutation_p.P643L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	914	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATAACCTGAAGGAGTTGAATA	0.483000														791			65		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3649647	3649647	+	Splice_Site	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:3649647G>T	uc002wit.3	-	22	2492	c.2405_splice	c.e22-1	p.A802_splice	ADAM33_uc002wiq.1_Intron|ADAM33_uc002wir.1_Intron|ADAM33_uc002wis.3_Splice_Site_p.A298_splice|ADAM33_uc002wiu.3_Splice_Site_p.A776_splice	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	802				Missing (in Ref. 2; AAM80482/AAM80483).	proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GACTTGATCTGCTGAGAATGA	0.537000														179			21		2.98393e-07	3.00656e-07	1	1	0
DMKN	93099	broad.mit.edu	37	19	36002316	36002317	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:36002316_36002317GG>AA	uc002nzm.4	-	4	1097_1098	c.914_915CC>TT	c.(913-915)tcc>tTT	p.S305F	DMKN_uc002nzj.3_5'Flank|DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Intron|DMKN_uc002nzn.4_Intron|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Missense_Mutation_p.S305F|DMKN_uc002oaa.4_Missense_Mutation_p.S305F|DMKN_uc002oab.4_Missense_Mutation_p.S305F|DMKN_uc002oac.4_Missense_Mutation_p.S305F	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	305	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AACTCACCCAGGAGGACTCACT	0.644000														27			8		0	0	1	0	0
CS	1431	broad.mit.edu	37	12	56676659	56676659	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:56676659G>A	uc001sks.1	-	4	574	c.384C>T	c.(382-384)atC>atT	p.I128I	CS_uc010sql.1_Silent_p.I115I|CS_uc001skr.1_Silent_p.I62I|CS_uc001skt.1_Silent_p.I83I|CS_uc010sqm.1_Silent_p.I62I	NM_004077	NP_004068	O75390	CISY_HUMAN	Homo sapiens citrate synthase (CS), nuclear gene encoding mitochondrial protein, mRNA.	128					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCTCTGTTGGGATATGTCCAG	0.473000														37			24		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51092902	51092902	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:51092902G>A	uc003tps.3	-	12	3887	c.3702C>T	c.(3700-3702)tcC>tcT	p.S1234S	COBL_uc003tpr.4_Silent_p.S1224S|COBL_uc011kcl.2_Silent_p.S1177S|COBL_uc003tpp.4_Silent_p.S1010S|COBL_uc003tpq.4_Silent_p.S1118S|COBL_uc003tpo.4_Silent_p.S766S	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1224										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGCTGAACCTGGAGGCCGTCC	0.627000														28			26		0	0	1	0	0
LYRM7	90624	broad.mit.edu	37	5	130506715	130506715	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:130506715T>C	uc003kvg.1	+	0	75	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_181705	NP_859056	Q5U5X0	LYRM7_HUMAN	Homo sapiens Lyrm7 homolog (mouse) (LYRM7), mRNA.	1										upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGAGAGCCATGGGACGGGCA	0.617000														0			9		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5667300	5667300	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:5667300G>A	uc003gij.3	-	7	1001	c.947C>T	c.(946-948)gCc>gTc	p.A316V	EVC2_uc003gik.3_Missense_Mutation_p.A236V|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	316						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GAGGAAGAGGGCAGCCCAGGT	0.572000														20			17		0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73153189	73153189	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:73153189C>T	uc003tzb.3	-	1	1	c.-62_splice	c.e1-1		ABHD11_uc003tza.3_Splice_Site|ABHD11_uc011kfb.2_Splice_Site|ABHD11_uc003tzc.3_Splice_Site|ABHD11_uc003tzf.3_Splice_Site	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	Homo sapiens abhydrolase domain containing 11 (ABHD11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.								hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				ccgcccatttccgtcttcagc	0.677000														3			5		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5058900	5058900	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:5058900C>T	uc002gau.1	+	31	5058	c.2828_splice	c.e31+1	p.R943_splice	USP6_uc002gav.1_Splice_Site_p.R943_splice|USP6_uc010ckz.1_Splice_Site_p.R626_splice	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	943					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGCCCAGGATCGGTGAGTTCA	0.448000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									5			40		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94727108	94727108	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:94727108C>T	uc003kla.1	+	0	61	c.15C>T	c.(13-15)ttC>ttT	p.F5F	FAM81B_uc010jbe.1_5'Flank	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	5								p.F5F(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AATTACAATTCCTTGGTACAT	0.378000														6			26		0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58480301	58480301	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:58480301G>A	uc001nnb.3	-	3	403	c.248C>T	c.(247-249)cCc>cTc	p.P83L	GLYAT_uc001nnc.3_Missense_Mutation_p.P83L	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	83					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ACAGTTTTGGGGATCTTTGGA	0.373000														30			29		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178409974	178409975	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:178409974_178409975GG>AA	uc003mjr.3	-	8	2551_2552	c.2372_2373CC>TT	c.(2371-2373)acc>aTT	p.T791I	GRM6_uc003mjq.3_Missense_Mutation_p.T194I	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	791					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGATGCAGGTGGTGTACATGGT	0.589000														9			22		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631138	6631138	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:6631138C>T	uc001ant.3	+	1	457	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	TAS1R1_uc001anu.3_Silent_p.L121L|TAS1R1_uc021ofp.1_Silent_p.L43L	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	121					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGTGCTCTCCCTGCCAGGGCA	0.582000														128			82		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15564052	15564052	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:15564052G>A	uc002nbe.2	-	14	2622	c.2536C>T	c.(2536-2538)Cca>Tca	p.P846S	RASAL3_uc002nbd.3_Missense_Mutation_p.P186S	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	846					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGGGGCGCTGGTCCCATGCTC	0.736000														6			3		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300713	158300713	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:158300713G>A	uc001frx.3	-	1	309	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CD1B_uc001frw.3_Silent_p.F67F|CD1B_uc010pic.1_Silent_p.F67F	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	67					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AAGGCTTCAGGAATATGGCAG	0.468000														96			296		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8138086	8138086	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:8138086C>T	uc002mjf.3	-	60	7815	c.7798G>A	c.(7798-7800)Gac>Aac	p.D2600N	FBN3_uc002mje.3_Missense_Mutation_p.D396N	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2600	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGATCAAAGTCAAAGCCAGAG	0.652000														53			15		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103206843	103206843	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:103206843C>T	uc022ajr.1	-	32	4924	c.4764G>A	c.(4762-4764)caG>caA	p.Q1588Q	RELN_uc022ajq.1_Silent_p.Q1588Q|RELN_uc010liz.3_Silent_p.Q1588Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1588					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAAAGCCCACTGGGCTGAAT	0.368000														21			21		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38783895	38783895	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:38783895G>A	uc003ciq.3	-	12	1993	c.1993C>T	c.(1993-1995)Ccc>Tcc	p.P665S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	665					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTGCAAAGGGATCCGTCACA	0.537000														23			13		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526276	189526276	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:189526276C>T	uc003fry.2	+	3	629	c.540C>T	c.(538-540)tcC>tcT	p.S180S	TP63_uc003frx.2_Silent_p.S180S|TP63_uc003frz.2_Silent_p.S180S|TP63_uc010hzc.1_Silent_p.S180S|TP63_uc003fsa.2_Silent_p.S86S|TP63_uc003fsb.2_Silent_p.S86S|TP63_uc003fsc.2_Silent_p.S86S|TP63_uc003fsd.2_Silent_p.S86S|TP63_uc021xir.1_Silent_p.S86S|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.S61S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	180					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCGACGTGTCCTTCCAGCAGT	0.637000										HNSCC(45;0.13)				27			34		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16254193	16254193	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:16254193C>T	uc003car.4	+	5	1790	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	GALNTL2_uc003caq.4_Missense_Mutation_p.R172C	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	439						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R439C(2)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GAACAGGGTTCGCATTGCTGA	0.547000														31			39		0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53285072	53285072	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:53285072G>A	uc004dsd.3	-	2	1110	c.909C>T	c.(907-909)gtC>gtT	p.V303V	IQSEC2_uc004dsc.3_Silent_p.V98V|IQSEC2_uc022bxf.1_Silent_p.V66V	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	293					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCCTCAGGGCGACACTGGCTG	0.652000														1			14		0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3162143	3162143	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:3162143C>T	uc001igp.3	+	15	1666	c.1590C>T	c.(1588-1590)gtC>gtT	p.V530V	PFKP_uc001igq.3_Silent_p.V522V|PFKP_uc009xhr.3_Silent_p.V492V|PFKP_uc009xhs.1_Silent_p.V314V|PFKP_uc009xht.3_Silent_p.V268V|PFKP_uc009xhu.3_Silent_p.V36V	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	530					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGTTCTGTGTCCCCATGGTCA	0.602000											OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			48		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179443758	179443758	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:179443758G>A	uc021vsy.1	-	268	60520	c.60295C>T	c.(60295-60297)Cct>Tct	p.P20099S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13794S|TTN_uc021vta.1_Missense_Mutation_p.P13727S|TTN_uc021vtb.1_Missense_Mutation_p.P13602S|AX746670_uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21026	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTGGAGGAGCCCACTTT	0.478000														19			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087718	9087718	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9087718C>T	uc002mkp.3	-	0	4301	c.4097G>A	c.(4096-4098)gGa>gAa	p.G1366E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1366	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTAGGACTTCCAGAGTAAGC	0.488000														49			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048429	9048429	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9048429C>T	uc002mkp.3	-	4	33406	c.33202G>A	c.(33202-33204)Gaa>Aaa	p.E11068K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11070	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGTGGTTTCTAGTTCACCA	0.502000														54			16		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289621	7289621	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:7289621C>T	uc001qss.3	+	5	1699	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	CLSTN3_uc001qsr.3_Silent_p.T375T	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	375					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCACTTCACCCTGTCCTTCT	0.587000														42			15		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635392	6635392	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:6635392C>T	uc001ant.3	+	2	1296	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Silent_p.L322L	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	400					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCCATGGCCTCCACCAGCTCC	0.607000														40			29		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22129637	22129637	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:22129637C>T	uc004dah.3	+	9	1335	c.1132C>T	c.(1132-1134)Ctt>Ttt	p.L378F	PHEX_uc011mjr.2_Missense_Mutation_p.L378F|PHEX_uc011mjs.2_Missense_Mutation_p.L281F	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	378					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AATTCCAAACCTTAGCAGGCG	0.393000														12			85		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134908	128134908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:128134908C>T	uc011ebt.2	-	3	1027	c.878G>A	c.(877-879)gGa>gAa	p.G293E	THEMIS_uc010kfa.3_Missense_Mutation_p.G196E|THEMIS_uc021zfa.1_Missense_Mutation_p.G293E|THEMIS_uc010kfb.3_Missense_Mutation_p.G258E	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	293	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGGTGGTTTCCTTCAGGTGC	0.403000														58			22		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284389	27284389	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:27284389C>T	uc002hdp.2	-	11	2665	c.2471G>A	c.(2470-2472)aGt>aAt	p.S824N	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.S824N|SEZ6_uc002hdq.1_Missense_Mutation_p.S699N	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	824	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGCCCGGTCACTCCACTTGGG	0.562000														38			104		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051797	79051797	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:79051797G>A	uc002bej.4	-	23	5238	c.5027C>T	c.(5026-5028)cCc>cTc	p.P1676L		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1676					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCTCGGGAGGGGGCGCCGTG	0.721000														3			10		0	0	1	0	0
DUS2L	54920	broad.mit.edu	37	16	68109264	68109264	+	Silent	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:68109264C>A	uc002evi.3	+	13	1088	c.939C>A	c.(937-939)gcC>gcA	p.A313A	DUS2L_uc002evj.3_Silent_p.A313A|DUS2L_uc010vkk.2_Silent_p.A278A	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.	313					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		CTAGTGAGGCCTTTGGCCTTG	0.592000														24			15		2.31682e-05	2.33032e-05	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144940609	144940609	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:144940609G>A	uc003zaa.1	-	0	6826	c.6813C>T	c.(6811-6813)ttC>ttT	p.F2271F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2271						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.G2270S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCGATGACGAAGCCGGTGG	0.716000														126			8		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069131	114069131	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:114069131G>A	uc003ebi.3	-	3	1974	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	ZBTB20_uc003ebj.3_Silent_p.F525F|ZBTB20_uc010hqp.3_Silent_p.F525F|ZBTB20_uc003ebk.3_Silent_p.F525F|ZBTB20_uc003ebl.3_Silent_p.F525F|ZBTB20_uc003ebm.3_Silent_p.F525F|ZBTB20_uc003ebn.3_Silent_p.F525F|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGTGTGTACGAACATGTGCT	0.557000														45			48		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135701	46135701	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:46135701C>T	uc003oxz.1	-	1	507	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	ENPP5_uc010jzc.1_Missense_Mutation_p.R100Q|ENPP5_uc011dvz.1_Missense_Mutation_p.R6Q|ENPP5_uc003oya.1_Missense_Mutation_p.R100Q	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	100						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AGATTTGTTCCGAATAGGATC	0.378000														16			27		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103339406	103339406	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:103339406C>T	uc001phn.1	+	88	12903	c.12759C>T	c.(12757-12759)ctC>ctT	p.L4253L	DYNC2H1_uc009yxe.1_Silent_p.L859L|DYNC2H1_uc001pho.2_Silent_p.L4246L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	4246					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATCAGTGCTCCCTTGTTTTA	0.368000														8			9		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124165059	124165059	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:124165059C>T	uc003ehg.3	+	19	3486	c.3359C>T	c.(3358-3360)aCc>aTc	p.T1120I	KALRN_uc010hrv.1_Missense_Mutation_p.T1111I|KALRN_uc003ehf.1_Missense_Mutation_p.T1120I|KALRN_uc011bjy.1_Missense_Mutation_p.T1111I|KALRN_uc003ehh.1_Missense_Mutation_p.T466I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1120					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T1120I(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATTTCTGGACCTTGAAGAAG	0.542000														25			6		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169656266	169656266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:169656266G>A	uc003fgd.3	+	8	1580	c.1313G>A	c.(1312-1314)gGa>gAa	p.G438E	SAMD7_uc003fge.3_Missense_Mutation_p.G438E|SAMD7_uc011bpo.2_Missense_Mutation_p.G339E	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	438								p.G438G(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATTCCTAAAGGAATTGAGCGA	0.408000														4			7		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137622164	137622164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:137622164G>A	uc004cfe.3	+	6	1389	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	336	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCGGCATCGGGGACTATGAC	0.622000														41			78		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31746952	31746952	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:31746952G>C	uc003nxe.3	-	28	3941	c.3518C>G	c.(3517-3519)cCc>cGc	p.P1173R	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Missense_Mutation_p.P110R	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1173					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCAACCCTGGGGGGCGGGAGC	0.706000														19			3		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21997764	21997764	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:21997764C>T	uc001rfh.3	-	24	3202	c.3182G>A	c.(3181-3183)gGt>gAt	p.G1061D	ABCC9_uc001rfi.1_Missense_Mutation_p.G1061D	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1061	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGCTGTGAGACCCATCCATTC	0.418000														38			18		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842147	5842147	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:5842147C>T	uc010qzp.2	+	0	582	c.582C>T	c.(580-582)ttC>ttT	p.F194F	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGCAATTTCAAGGTCAATG	0.473000														65			102		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604243	90604243	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:90604243C>T	uc011eaa.2	+	0	56	c.56C>T	c.(55-57)aCc>aTc	p.T19I		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	19					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T19T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCCCACTCAACCATAGTGGGG	0.458000														65			71		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124745039	124745039	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:124745039C>T	uc001qbc.3	+	13	2275	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	702	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGCAAGGTTTCCGGGTGTCTT	0.607000														8			6		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363957	84363957	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:84363957C>T	uc004een.3	-	0	18	c.18G>A	c.(16-18)acG>acA	p.T6T		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	61							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGATTGGTTCGTGCCTGATT	0.478000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			6		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581115	234581115	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:234581115G>A	uc002vus.3	+	0	572	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.E179K	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	182					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTATCTTGAAGAAGGTGCACA	0.473000														59			133		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30670975	30670975	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:30670975G>A	uc003nrg.4	-	11	6211	c.5771C>T	c.(5770-5772)tCc>tTc	p.S1924F	MDC1_uc003nrf.4_Missense_Mutation_p.S555F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1924	BRCT 1.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GACCAGGTGGGAAGCCTCTGC	0.632000								Other conserved DNA damage response genes						49			16		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167203	6167203	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:6167203G>A	uc001qnn.1	-	13	1791	c.1541C>T	c.(1540-1542)cCc>cTc	p.P514L	VWF_uc010set.1_Missense_Mutation_p.P514L	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	514	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCATAGACGGGGGACAGCTG	0.567000														52			24		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144408428	144408428	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:144408428G>A	uc003yxz.3	-	3	466	c.447C>T	c.(445-447)gcC>gcT	p.A149A	TOP1MT_uc011lkd.2_Silent_p.A51A|TOP1MT_uc011lke.2_Silent_p.A51A|TOP1MT_uc011lkf.2_5'Flank|TOP1MT_uc010mfd.1_5'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	149					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TCCGGGCTGCGGCCTTGTCCA	0.587000														84			52		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155792082	155792082	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:155792082G>A	uc001flz.2	-	3	980	c.883C>T	c.(883-885)Ctt>Ttt	p.L295F	GON4L_uc001fly.1_Missense_Mutation_p.L295F|GON4L_uc009wrh.1_Missense_Mutation_p.L295F|GON4L_uc001fma.1_Missense_Mutation_p.L295F|GON4L_uc001fmc.3_Missense_Mutation_p.L295F|GON4L_uc001fmd.4_Missense_Mutation_p.L295F|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.L123F|GON4L_uc001fmf.3_5'Flank	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	295					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCACATGAAGGATGTTTCGG	0.428000														127			23		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889410	147889410	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:147889410A>G	uc021yfj.1	-	4	732	c.685T>C	c.(685-687)Tta>Cta	p.L229L	HTR4_uc021yfg.1_Silent_p.L229L|HTR4_uc021yfh.1_Silent_p.L229L|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.L229L|HTR4_uc011dby.1_Silent_p.L229L|HTR4_uc003lpn.3_Silent_p.L229L|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.L229L	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	229					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GCCCGTTGTAACATCTGGATC	0.557000														9			15		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83173111	83173111	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:83173111C>T	uc001paj.2	-	21	2743	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	DLG2_uc001pai.2_Missense_Mutation_p.E693K|DLG2_uc010rsy.1_Missense_Mutation_p.E763K|DLG2_uc021qof.1_Missense_Mutation_p.E853K|DLG2_uc010rsz.1_Missense_Mutation_p.E810K|DLG2_uc010rta.1_Missense_Mutation_p.E796K|DLG2_uc001pak.2_Missense_Mutation_p.E919K|DLG2_uc010rtb.1_Missense_Mutation_p.E781K|DLG2_uc010rsx.1_Missense_Mutation_p.E291K|DLG2_uc010rsw.1_Missense_Mutation_p.E278K	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	814	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTGGCTTGTTCCTCTGTTAGA	0.348000														36			13		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4935290	4935290	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:4935290C>T	uc002cyd.1	-	21	3456	c.3366G>A	c.(3364-3366)aaG>aaA	p.K1122K		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1122					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGGCCGCGTCCTTCTCCACCT	0.627000														34			33		0	0	1	0	0
RS1	6247	broad.mit.edu	37	X	18660157	18660157	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:18660157C>T	uc004cyo.3	-	5	677	c.642G>A	c.(640-642)atG>atA	p.M214I	CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	214	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		p.R213Q(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCAGCAGCTCCATCCGGATGG	0.677000														2			37		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711223	12711223	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:12711223G>A	uc001auf.3	+	1	250	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	84						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		AATTAAAAAGGACCCTGAACT	0.483000														108			15		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35873739	35873739	+	Silent	SNP	C	T	T	rs138638219		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:35873739C>T	uc001byt.3	+	25	4007	c.3927C>T	c.(3925-3927)taC>taT	p.Y1309Y	ZMYM4_uc009vuu.3_Silent_p.Y1277Y|ZMYM4_uc001byu.3_Silent_p.Y985Y|ZMYM4_uc009vuv.3_Silent_p.Y1048Y	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1309					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTATCTTATACTTGTGCCTTG	0.403000														61			29		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19049269	19049269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:19049269C>T	uc002dfp.2	+	7	1209	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	TMC7_uc010vao.1_Silent_p.L354L|TMC7_uc002dfq.3_Missense_Mutation_p.S360F|TMC7_uc010vap.2_Missense_Mutation_p.S250F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	360						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CGCATTTACTCTTTGAGACTG	0.393000														48			44		0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987561	7987561	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:7987561C>T	uc002miw.2	+	4	975	c.917C>T	c.(916-918)tCg>tTg	p.S306L	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	306					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GAACTGAAATCGCCTTGGCAA	0.682000														93			33		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21229393	21229393	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:21229393T>G	uc010sil.2	+	14	2003	c.1938T>G	c.(1936-1938)atT>atG	p.I646M	SLCO1B3_uc010sim.2_Missense_Mutation_p.I585M|SLCO1B3_uc010sin.2_Missense_Mutation_p.I538M			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	628					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CAGGAGGTATTCTAGTTCCAA	0.368000														51			29		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748566	79748566	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:79748566C>A	uc002bew.1	+	1	152	c.77C>A	c.(76-78)tCt>tAt	p.S26Y	KIAA1024_uc010unk.1_Missense_Mutation_p.S26Y	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	26						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AATACCGTTTCTTATCAGGAC	0.473000														9			44		3.77016e-25	3.84134e-25	1	1	0
FLG	2312	broad.mit.edu	37	1	152275974	152275974	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:152275974C>T	uc001ezu.1	-	2	11424	c.11388G>A	c.(11386-11388)agG>agA	p.R3796R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3796	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3795*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGCATCAGACCTTCCCTGGG	0.572000									Ichthyosis					625			94		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393463	164393463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:164393463C>T	uc003iqp.4	-	0	1585	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	475						cytoplasm	metal ion binding|transketolase activity	p.R475Q(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGGCTGGTTCGAATGAAGCA	0.453000														46			30		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20136892	20136892	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:20136892C>T	uc003cbq.3	+	2	1014	c.568C>T	c.(568-570)Cta>Tta	p.L190L		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	190					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTATTTCTATCTATTTAAGGT	0.368000														18			4		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46977893	46977893	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:46977893C>T	uc001cpx.3	+	3	891	c.876C>T	c.(874-876)gcC>gcT	p.A292A	DMBX1_uc001cpw.3_Silent_p.A287A	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	292					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P291P(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GGGGTCCGGCCCCTGCTGCTG	0.657000														26			56		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203822	5203822	+	RNA	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:5203822C>T	uc009xhz.2	-	2		c.458G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGCTGACCTTCATAGCAAATG	0.413000														5			39		0	0	1	0	0
C8orf46	254778	broad.mit.edu	37	8	67417683	67417683	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:67417683C>T	uc003xwg.3	+	2	593	c.200C>T	c.(199-201)cCt>cTt	p.P67L	C8orf46_uc003xwh.3_Non-coding_Transcript|C8orf46_uc011let.2_Missense_Mutation_p.P67L	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	Homo sapiens chromosome 8 open reading frame 46 (C8orf46), mRNA.	67										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGCAGGGACCCTGGCGACCGC	0.731000														8			7		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73072090	73072090	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:73072090G>A	uc004ebm.1	-	0		c.499C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ATGGGCTAAGGAAAAAAAAAT	0.468000														0			7		0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52179833	52179833	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:52179833G>A	uc002abn.3	+	3	614	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	TMOD3_uc010bfc.1_Non-coding_Transcript	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	Homo sapiens tropomodulin 3 (ubiquitous) (TMOD3), mRNA.	111						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TTTTACAGAAGAAAAAGTGTC	0.343000														13			48		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1813667	1813667	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:1813667G>A	uc010uvl.2	+	16	2028	c.1908G>A	c.(1906-1908)acG>acA	p.T636T	MAPK8IP3_uc002cmk.3_Silent_p.T635T|MAPK8IP3_uc002cml.3_Silent_p.T625T|MAPK8IP3_uc021tah.1_Silent_p.T629T	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	635					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCGACTGCACGTCCTCCGCCC	0.672000														6			8		0	0	1	0	0
SAC3D1	29901	broad.mit.edu	37	11	64812008	64812008	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:64812008G>A	uc001ocm.3	+	1	1275	c.886G>A	c.(886-888)Gcc>Acc	p.A296T		NM_013299	NP_037431			Homo sapiens SAC3 domain containing 1 (SAC3D1), mRNA.											endometrium(2)|lung(1)	3						CCTGTGCCAGGCCCACGGGCT	0.622000														22			25		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671830	49671830	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:49671830G>A	uc002efs.3	-	4	1531	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	ZNF423_uc010vgn.2_Silent_p.C294C	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	411					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AACAATAGGGGCAGCTATAGA	0.617000														30			32		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7812586	7812586	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:7812586C>T	uc001aoi.3	+	20	5158	c.4951C>T	c.(4951-4953)Cgc>Tgc	p.R1651C	CAMTA1_uc001aok.4_Missense_Mutation_p.R694C|CAMTA1_uc001aoj.3_Missense_Mutation_p.R614C|CAMTA1_uc009vmf.3_Missense_Mutation_p.R241C	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCGCCGCTGTCGCCACAGGTA	0.418000			T	WWTR1	epitheliod hemangioendothelioma									44			6		0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151282724	151282724	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:151282724G>A	uc001exr.3	-	3	1592	c.953C>T	c.(952-954)tCc>tTc	p.S318F	PI4KB_uc001exs.3_Intron|PI4KB_uc001exu.3_Intron|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Missense_Mutation_p.S306F	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	306					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGCTGGAGGAGAGCTCCTg	0.577000														16			3		0	0	1	0	0
TP53I11	9537	broad.mit.edu	37	11	44959125	44959125	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:44959125G>A	uc001myi.3	-	5	774	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	TP53I11_uc001myf.1_Non-coding_Transcript|TP53I11_uc001myj.3_Missense_Mutation_p.R57W|TP53I11_uc001myk.3_Missense_Mutation_p.R57W|TP53I11_uc001myl.3_Missense_Mutation_p.R57W|TP53I11_uc001mym.3_Intron	NM_006034	NP_006025	O14683	P5I11_HUMAN	Homo sapiens tumor protein p53 inducible protein 11 (TP53I11), mRNA.	57					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						AAAGGCTCCCGAATGGTAAAC	0.582000														14			6		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774474	40774474	+	Silent	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:40774474C>A	uc004abs.2	-	4	953	c.801G>T	c.(799-801)ggG>ggT	p.G267G	ZNF658_uc010mmm.2_Silent_p.G267G|ZNF658_uc010mmn.1_Silent_p.G267G	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R266M(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGAGCATTTCCCCCTTGTGT	0.358000														81			79		5.98988e-27	6.11017e-27	1	1	0
FLJ00285	0	broad.mit.edu	37	16	15224982	15224982	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:15224982G>A	uc002ddh.2	-	0	586	c.194C>T	c.(193-195)gCc>gTc	p.A65V	PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript|FLJ00285_uc002ddi.3_5'UTR|FLJ00285_uc010uzt.2_Missense_Mutation_p.A65V					RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285;																		ATGCAGCACGGCCGCAGGGTT	0.682000														15			12		0	0	1	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409792	22409792	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:22409792G>A	uc021rpl.1	+	1	325	c.282G>A	c.(280-282)ttG>ttA	p.L94L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Silent_p.L94L					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		CTTTCCACTTGGAGAAAGGCT	0.502000														26			28		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7340418	7340418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:7340418G>A	uc003bqm.2	+	2	1058	c.784G>A	c.(784-786)Gac>Aac	p.D262N	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.D262N|GRM7_uc003bql.2_Missense_Mutation_p.D262N|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	262					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGAACGCAAAGACAGGACCAT	0.448000														19			19		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810636	123810636	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:123810636C>T	uc001pzk.1	+	0	313	c.313C>T	c.(313-315)Cac>Tac	p.H105Y		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTCTTCTTCCACTTCATTGG	0.493000														30			35		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188692	140188692	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:140188692G>A	uc003lhi.2	+	0	2021	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.T640T|PCDHAC2_uc011daa.2_Silent_p.T640T	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	651	Cadherin 6.				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)			TGGACGAAACGGACGCTCCGC	0.672000														22			64		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7169929	7169929	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:7169929C>T	uc001qsj.3	+	5	875	c.156C>T	c.(154-156)ctC>ctT	p.L52L	C1S_uc001qsk.3_Silent_p.L52L|C1S_uc001qsl.3_Silent_p.L52L|C1S_uc009zfr.3_Intron|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	52	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGATTCACCTCTACTTCACCC	0.463000														34			10		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	144922398	144922398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:144922398C>T	uc003ijm.1	-	1	132	c.76G>A	c.(76-78)Gca>Aca	p.A26T	GYPA_uc003ijn.2_Intron|GYPA_uc010ioo.1_Non-coding_Transcript|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Intron|GYPA_uc011chw.1_Intron|GYPA_uc011chx.1_Intron|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Non-coding_Transcript|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Non-coding_Transcript	NM_002100	NP_002091	P02724	GLPA_HUMAN	Homo sapiens glycophorin B (MNS blood group) (GYPB), mRNA.	26					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GTGTGCATTGCCACCTCAGTG	0.368000														79			16		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189456537	189456537	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:189456537G>A	uc003fry.2	+	2	387	c.298G>A	c.(298-300)Gac>Aac	p.D100N	TP63_uc003frx.2_Missense_Mutation_p.D100N|TP63_uc003frz.2_Missense_Mutation_p.D100N|TP63_uc010hzc.1_Missense_Mutation_p.D100N	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	100	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCGCATGCAGGACTCGGACCT	0.473000										HNSCC(45;0.13)				23			6		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120502576	120502576	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:120502576C>A	uc001txl.1	+	3	827	c.802C>A	c.(802-804)Cgt>Agt	p.R268S	CCDC64_uc001txk.2_Missense_Mutation_p.R268S|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Missense_Mutation_p.R12S	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	268					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGAGCATCGTCTCAGCGC	0.567000														84			27		4.87955e-14	4.94542e-14	1	1	0
MUC16	94025	broad.mit.edu	37	19	9059611	9059611	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9059611G>A	uc002mkp.3	-	2	28039	c.27835C>T	c.(27835-27837)Caa>Taa	p.Q9279*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9281	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTTTGTTTGAATCCTACTG	0.473000														33			40		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112608237	112608237	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:112608237C>T	uc021reb.1	-	68	11946	c.11550G>A	c.(11548-11550)acG>acA	p.T3850T		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CGGTCACCTTCGTGTCATAGA	0.587000											OREG0022132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			8		0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99314084	99314084	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:99314084G>A	uc004awj.3	-	4	943	c.491C>T	c.(490-492)cCt>cTt	p.P164L	CDC14B_uc004awk.3_Missense_Mutation_p.P164L|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Missense_Mutation_p.P127L	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	164	A.				DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTACCTGAAAGGAATATAGGA	0.318000														21			27		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178579179	178579179	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:178579179C>T	uc003mjw.3	-	9	1695	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	ADAMTS2_uc011dgm.2_Silent_p.G531G	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	531	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCAAGGGGGGCCCCTTCTTGG	0.592000														8			11		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57745951	57745951	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:57745951G>A	uc010bfw.3	+	7	2318	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	CGNL1_uc002aeg.3_Missense_Mutation_p.E709K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	709						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCAGCTCTCAGAAATGCACGA	0.552000														2			17		0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9491817	9491817	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9491817C>T	uc021uon.1	+	5	971	c.810C>T	c.(808-810)tcC>tcT	p.S270S	ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Intron	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	278					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C269Y(1)|p.C269R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						ACCCTTTGTCCCTTCAGAACT	0.433000														28			21		0	0	1	0	0
VPS37A	137492	broad.mit.edu	37	8	17132396	17132396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:17132396C>T	uc003wxj.3	+	4	924	c.571C>T	c.(571-573)Cct>Tct	p.P191S	VPS37A_uc003wxk.3_Missense_Mutation_p.P166S|VPS37A_uc003wxl.3_5'UTR	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog A (S. cerevisiae) (VPS37A), transcript variant 1, mRNA.	191					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		CACAGCCAAGCCTGCCGCTCC	0.433000														61			12		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701424	56701424	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:56701424G>A	uc010ygh.2	-	3	1260	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	420					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTCGTGGGCGAACCGCTTTT	0.567000														23			26		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71018672	71018672	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:71018672G>A	uc001jpf.4	+	14	2306	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	HKDC1_uc010qje.2_Missense_Mutation_p.D588N|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	725					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GACCCGATACGACACGGAGGT	0.517000														2			8		0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724845	138724845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:138724845C>T	uc011bms.2	-	0	266	c.266G>A	c.(265-267)cGa>cAa	p.R89Q		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	89										endometrium(3)|kidney(1)|lung(7)	11						GAGAGACACTCGCAGGATCGA	0.657000														14			6		0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85630815	85630815	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:85630815C>T	uc004amo.1	-	4	931	c.670_splice	c.e4-1	p.E224_splice		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	224					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTGCGTTTTTCCTAAAAGAAA	0.388000														79			28		0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036417	50036417	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:50036417G>A	uc001rur.1	+	19	2074	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.E693K|PRPF40B_uc001ruq.1_Missense_Mutation_p.E658K|PRPF40B_uc001rus.1_Missense_Mutation_p.E614K|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	671					RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCTGGAGTCGGAGCGGATCCG	0.577000														9			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182296	140182296	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:140182296C>T	uc003lhf.2	+	0	1514	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S505L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	519	Cadherin 5.				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)			CGCGCGCTGTCGAGCTACGTG	0.682000														17			69		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271506	164271506	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:164271506C>T	uc003iqn.3	+	3	263	c.81C>T	c.(79-81)ttC>ttT	p.F27F	NPY5R_uc021xtw.1_Silent_p.F27F	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	27					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.F27F(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTCTGATTTCCCAGTCTGGG	0.393000														22			22		0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52375986	52375986	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:52375986G>A	uc010yde.2	-	6	1648	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Silent_p.S360S|ZNF577_uc002pxv.3_Silent_p.S412S|ZNF577_uc002pxw.3_Silent_p.S353S	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGGTTCCTGAGGAAGGCATTT	0.443000														18			29		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62453097	62453097	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:62453097C>T	uc010ihh.3	+	1	381	c.208C>T	c.(208-210)Cct>Tct	p.P70S	LPHN3_uc003hcq.4_Missense_Mutation_p.P70S|LPHN3_uc010ihg.1_Missense_Mutation_p.P138S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	70	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.P70P(1)|p.P70H(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGACTCTGACCCTGCTCAGAT	0.403000														21			6		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924022	188924022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:188924022G>A	uc003izh.1	+	3	469	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	ZFP42_uc003izi.1_Missense_Mutation_p.A21T|ZFP42_uc021xvm.1_Missense_Mutation_p.A21T	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	21					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGGTGGAAGAGCCCCCAGTGG	0.552000														35			26		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919174	21919174	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:21919174G>A	uc001rff.3	-	2	1096	c.758C>T	c.(757-759)cCa>cTa	p.P253L		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	253						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GCTCTCGATTGGGTTATCAAC	0.493000														17			10		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641003	99641003	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:99641003C>T	uc001yga.3	-	3	2437	c.2170G>A	c.(2170-2172)Gac>Aac	p.D724N	BCL11B_uc001ygb.3_Missense_Mutation_p.D653N	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	724						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGGAAGGGGTCCTTCATGAAG	0.692000			T	TLX3	T-ALL									23			5		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665378	117665378	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:117665378G>A	uc001twn.2	-	23	4287	c.3576C>T	c.(3574-3576)ttC>ttT	p.F1192F	NOS1_uc021ren.1_Silent_p.F822F|NOS1_uc021reo.1_Silent_p.F822F|NOS1_uc001twm.2_Silent_p.F1158F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1158	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGATAGATGGGAACTCCTCCA	0.582000														56			21		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39817371	39817371	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:39817371G>A	uc010gnw.3	-	3	508	c.213C>T	c.(211-213)gtC>gtT	p.V71V	ERG_uc021wjd.1_Silent_p.V71V|ERG_uc002yxa.3_Silent_p.V64V|ERG_uc011aek.2_Intron|ERG_uc010gnv.3_Intron|ERG_uc010gnx.3_Silent_p.V71V|ERG_uc011ael.2_Silent_p.V71V|ERG_uc002yxb.3_Silent_p.V71V|ERG_uc011aem.1_Silent_p.V64V|ERG_uc002yxc.4_Silent_p.V71V	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	71					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TTTTGATGGTGACCCTGGCTG	0.552000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									11			12		0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179791	3179791	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:3179791C>T	uc002lxg.3	+	0	1056	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	334					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						ATGCGAGGGCCCGGGGACTGC	0.687000														87			25		0	0	1	0	0
ABHD3	171586	broad.mit.edu	37	18	19282284	19282284	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:19282284C>T	uc002ktl.2	-	2	642	c.502G>A	c.(502-504)Gga>Aga	p.G168R	ABHD3_uc010xao.1_Non-coding_Transcript|MIB1_uc002ktp.3_5'Flank	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.	168						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TACCTGTATCCTAATTCTTCA	0.368000														34			19		0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105244589	105244589	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:105244589G>A	uc003pqu.1	-	8	1034	c.757C>T	c.(757-759)Ccg>Tcg	p.P253S	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.P253S	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	253					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	p.H252N(1)|p.P253P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAAGCCTCGGGTGATATTGA	0.328000														8			18		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146557	185146557	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:185146557C>T	uc010hyf.3	+	2	479	c.188C>T	c.(187-189)cCc>cTc	p.P63L	MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_5'UTR|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Missense_Mutation_p.P63L|MAP3K13_uc010hyg.3_5'UTR	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	63					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTGCACAGCCCCGTCACCACA	0.552000														16			6		0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82439279	82439279	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:82439279C>T	uc011lfp.2	-	2	324	c.324G>A	c.(322-324)aaG>aaA	p.K108K	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	108							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						CATCCACCAGCTTTCTCGTTA	0.408000														8			9		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848477	78848477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:78848477G>A	uc004akc.2	+	21	3369	c.2831G>A	c.(2830-2832)gGa>gAa	p.G944E		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	647					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGATGCCAAGGAAGTGGCCCT	0.527000														51			20		0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30309562	30309562	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:30309562C>G	uc010jrz.3	+	8	1395	c.1083C>G	c.(1081-1083)ttC>ttG	p.F361L	TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.F331L|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.F331L|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.F331L|TRIM39-RPP21_uc010jsa.2_Missense_Mutation_p.F331L	NM_021253	NP_067076	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.	243						intracellular	zinc ion binding										GCGTCAAGTTCGTGGAGACAA	0.572000														25			9		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76640701	76640701	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:76640701C>T	uc003pik.1	-	14	2342	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	738					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGGAGGACCTCGCATTCCTTT	0.547000														65			19		0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7584437	7584437	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:7584437C>T	uc002mgn.2	+	1	479	c.309C>T	c.(307-309)ccC>ccT	p.P103P	ZNF358_uc021unu.1_Silent_p.P103P	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	103					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GCCCCGTACCCCTGATTCTCG	0.622000														91			35		0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57840144	57840144	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:57840144G>A	uc003hck.3	-	1	1264	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	Homo sapiens nitric oxide associated 1 (NOA1), mRNA.	397							GTP binding										ATTCTGTAAGGAGTTGGGTTG	0.338000														35			9		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104130480	104130480	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:104130480G>A	uc001kux.2	+	28	3814	c.3520G>A	c.(3520-3522)Gtg>Atg	p.V1174M	GBF1_uc001kuy.2_Missense_Mutation_p.V1174M|GBF1_uc001kuz.2_Missense_Mutation_p.V1175M	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1174					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGTGGGCTGTGTGTGGCAGAC	0.552000														14			58		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183186	13183186	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:13183186C>T	uc010obg.2	-	1	930	c.687G>A	c.(685-687)atG>atA	p.M229I		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	229						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CATCTTTCTTCATGGAGCTAC	0.463000														159			29		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73483003	73483003	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:73483003G>A	uc003tzw.3	+	32	2257	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	ELN_uc003tzn.3_Silent_p.G716G|ELN_uc003tzy.3_Silent_p.G692G|ELN_uc003tzz.3_Silent_p.G635G|ELN_uc003tzo.3_Silent_p.G650G|ELN_uc003tzp.3_Silent_p.G609G|ELN_uc003tzq.3_Silent_p.G562G|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.G697G|ELN_uc003tzt.3_Silent_p.G703G|ELN_uc003tzu.3_Silent_p.G684G|ELN_uc003tzv.3_Silent_p.G669G|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.G706G|ELN_uc011kff.2_Silent_p.G698G	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	778	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCTGCCTGGGGAAAGCTTGTG	0.577000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							23			21		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543374	182543375	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:182543374_182543375CT>TC	uc021vto.1	-	0	213_214	c.213_214AG>GA	c.(211-216)gaagag>gaGAag	p.E72K	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.E72K|NEUROD1_uc021vtn.1_Missense_Mutation_p.E72K	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	72	Glu-rich (acidic).|Poly-Glu.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			tcctcttcctcttcttcctcct	0.530000														26			8		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92615919	92615919	+	Silent	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:92615919C>A	uc001pdj.4	+	22	12314	c.12297C>A	c.(12295-12297)atC>atA	p.I4099I	FAT3_uc001pdi.4_Silent_p.I539I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4099	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGAGGACATCAATGAGTGCG	0.587000										TCGA Ovarian(4;0.039)				11			5		0.217242	0.217368	1	1	0
C1orf49	84066	broad.mit.edu	37	1	178490396	178490396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:178490396C>T	uc001glt.2	+	7	695	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	C1orf49_uc021pfd.1_Missense_Mutation_p.R195W|C1orf49_uc001glu.1_3'UTR|C1orf49_uc021pfe.1_Missense_Mutation_p.R195W|C1orf49_uc001glw.2_Missense_Mutation_p.R203W|C1orf49_uc001glv.1_Non-coding_Transcript	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	195						microtubule cytoskeleton		p.R195W(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						CAACTACAATCGGGGTAGGTA	0.498000														184			29		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43197399	43197399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:43197399G>A	uc003xpz.1	+	10	1331	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	POTEA_uc003xqa.1_Missense_Mutation_p.D384N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	430										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCGTCAGAGGATTATGATTT	0.358000														39			22		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109813606	109813606	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:109813606C>T	uc001dxa.4	+	24	7602	c.7541C>T	c.(7540-7542)tCc>tTc	p.S2514F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2514					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCTGGCTCTCCATCTATGAC	0.627000														287			52		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201016683	201016683	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:201016683G>T	uc001gvv.3	-	36	4740	c.4513C>A	c.(4513-4515)Ctc>Atc	p.L1505I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1505					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGTCCAAGAGCTTCATGCTG	0.537000														60			14		2.32078e-09	2.34386e-09	1	1	0
CILP	8483	broad.mit.edu	37	15	65496853	65496853	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:65496853G>A	uc002aon.2	-	5	853	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	224					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.F224F(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATGAAGCATGAAGTCCTGGC	0.597000														10			48		0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8809178	8809178	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:8809178C>T	uc003brc.3	-	2	1318	c.696G>A	c.(694-696)cgG>cgA	p.R232R		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	232					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CGGTCTTGAGCCGCAAGTTCT	0.662000														8			6		0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150731374	150731374	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:150731374G>A	uc003wil.4	+	3	567	c.474G>A	c.(472-474)gcG>gcA	p.A158A	ABCB8_uc003wii.2_Silent_p.A178A|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.3_Silent_p.A141A|ABCB8_uc011kvd.2_Silent_p.A53A|ABCB8_uc003wim.4_5'UTR|ABCB8_uc003wik.4_Silent_p.A141A	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	158	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTGGGTGCGGCACTCGTGA	0.592000														56			12		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155030485	155030485	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:155030485C>T	uc001fgr.1	+	13	1676	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Silent_p.A210A|ADAM15_uc010pet.1_Silent_p.A509A|ADAM15_uc010peu.1_Silent_p.A542A|ADAM15_uc001fgx.1_Silent_p.A525A|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.A525A|ADAM15_uc001fgs.1_Silent_p.A525A|ADAM15_uc010pev.1_Silent_p.A535A|ADAM15_uc001fgu.1_Silent_p.A525A|ADAM15_uc001fgv.1_Silent_p.A525A|ADAM15_uc001fgw.1_Silent_p.A525A	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	525	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCGTTGTGCCTCCTATGCCC	0.632000														24			59		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71717120	71717120	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:71717120G>A	uc001orl.1	-	21	5825	c.5653C>T	c.(5653-5655)Cgt>Tgt	p.R1885C	NUMA1_uc001orj.2_Missense_Mutation_p.R67C|NUMA1_uc009ysw.1_Missense_Mutation_p.R1452C|NUMA1_uc001ork.1_Missense_Mutation_p.R749C|NUMA1_uc001orm.1_Missense_Mutation_p.R1871C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1885					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGGAACGACGAGCAGAACTG	0.602000			T	RARA	APL									53			53		0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018763	1018763	+	Silent	SNP	C	T	T	rs146112374		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:1018763C>T	uc003gce.3	+	6	1304	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	FGFRL1_uc003gcf.3_Silent_p.I381I|FGFRL1_uc003gcg.3_Silent_p.I381I|FGFRL1_uc010ibo.3_Silent_p.I381I	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	381					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCGTGGTCATCGGCATCCCAG	0.682000														41			13		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817638	7817638	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:7817638C>T	uc001mfp.1	-	0	852	c.852G>A	c.(850-852)ctG>ctA	p.L284L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCTGTAGATCAGGGGGTTCA	0.413000														46			20		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840454	38840454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:38840454C>T	uc021yzh.1	+	49	7242	c.7133C>T	c.(7132-7134)gCc>gTc	p.A2378V	DNAH8_uc003ooe.2_Missense_Mutation_p.A2161V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATCCAAAAGCCATTACTGCA	0.443000														17			38		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	31977552	31977552	+	RNA	SNP	C	G	G	rs116821755	by1000genomes	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:31977552C>G	uc021yvf.1	-	8		c.2260G>C						P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCCGCTCCCGGTTGCCGT	0.667000														40			4		0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149831996	149831996	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:149831996C>T	uc004fef.4	+	13	1634	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Nonsense_Mutation_p.R483*|MTM1_uc011mxz.2_Nonsense_Mutation_p.R405*|MTM1_uc010nte.3_Nonsense_Mutation_p.R388*	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	520	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATCAATCGAGTTTTATA	0.373000														5			25		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116435842	116435843	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:116435842_116435843CC>TT	uc003vij.3	+	19	4119_4120	c.3932_3933CC>TT	c.(3931-3933)ccc>cTT	p.P1311L	MET_uc010lkh.3_Missense_Mutation_p.P1329L|MET_uc011knj.2_Missense_Mutation_p.P881L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1311	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGCCCAGACCCCTTGTAAGTAG	0.426000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		68			69		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064344	9064344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9064344G>A	uc002mkp.3	-	2	23306	c.23102C>T	c.(23101-23103)cCt>cTt	p.P7701L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7703	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGAAACAGGATGAGGTGA	0.562000														40			18		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756587	56756587	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:56756587G>A	uc010rjp.2	+	0	199	c.199G>A	c.(199-201)Gct>Act	p.A67T		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACAACATTTGGCTTTTGTTGA	0.368000														28			35		0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129251202	129251202	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:129251202C>T	uc003emt.3	+	2	734	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	213					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCCACTTCACCATCCCCATGA	0.572000														59			28		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32481286	32481286	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:32481286C>T	uc001rku.3	+	4	1978	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	BICD1_uc001rkv.3_Missense_Mutation_p.R633W|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	633					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton	p.R633Q(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGCCATAATCCGGGACCAAAT	0.483000														40			43		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430689	179430689	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:179430689C>T	uc021vsy.1	-	274	72691	c.72466G>A	c.(72466-72468)Gag>Aag	p.E24156K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17851K|TTN_uc021vta.1_Missense_Mutation_p.E17784K|TTN_uc021vtb.1_Missense_Mutation_p.E17659K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25083							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTTGACTCACGTTTGTCA	0.418000														28			99		0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59509987	59509987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:59509987G>A	uc011lee.2	-	20	1905	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	NSMAF_uc003xtt.3_Missense_Mutation_p.S584F	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	584					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GGAGGTCTGGGACAAACTTTT	0.403000														79			85		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29130442	29130442	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:29130442G>A	uc003adu.1	-	1	340	c.268C>T	c.(268-270)Cct>Tct	p.P90S	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Missense_Mutation_p.P90S|CHEK2_uc010gvi.1_Missense_Mutation_p.P90S|CHEK2_uc003adt.1_Missense_Mutation_p.P90S|CHEK2_uc003adv.1_Missense_Mutation_p.P90S|CHEK2_uc003adx.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	90					DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAGGGGGCAGGGGTAGGCTCC	0.488000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						19			13		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263377	248263377	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:248263377A>C	uc001ids.3	+	2	1037	c.700A>C	c.(700-702)Aaa>Caa	p.K234Q	OR2L13_uc021pmc.1_Missense_Mutation_p.K234Q	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGAGGGGAGAAAAAAGGCCTT	0.448000														22			62		0	0	1	0	0
SLC16A10	117247	broad.mit.edu	37	6	111543257	111543257	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:111543257G>A	uc003pus.3	+	5	1542	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	SLC16A10_uc003put.3_Missense_Mutation_p.G142E	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	456					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TACCTCGCTGGAGTCCCTCCC	0.468000														53			19		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479463	156479463	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:156479463C>T	uc010jij.1	-	3	767	c.582G>A	c.(580-582)acG>acA	p.T194T	HAVCR1_uc011ddl.1_Silent_p.T25T|HAVCR1_uc003lwi.2_Silent_p.T194T|HAVCR1_uc021ygj.1_Silent_p.T194T|HAVCR1_uc021ygk.1_Silent_p.T25T|HAVCR1_uc011ddm.2_Silent_p.T194T	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	189	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.T194T(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAATGCTCGTTGTCGTTG	0.463000														49			175		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39768639	39768639	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:39768639C>T	uc021olt.1	+	21	2745	c.2693C>T	c.(2692-2694)tCt>tTt	p.S898F	MACF1_uc021ols.1_Missense_Mutation_p.S898F|MACF1_uc001cdc.2_Missense_Mutation_p.S898F|MACF1_uc001cda.1_Missense_Mutation_p.S806F|MACF1_uc009vvq.1_Intron|MACF1_uc001cdb.1_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	898	SH3.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGATAATTCTCAGCGGACC	0.433000														55			14		0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149761663	149761663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:149761663G>A	uc001esp.4	+	4	663	c.613G>A	c.(613-615)Ggg>Agg	p.G205R	HIST2H2BF_uc010pbj.2_Intron	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	205	Ig-like C2-type 3.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTCCTGGAGGGGAATCTGGT	0.522000														49			7		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79461888	79461888	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:79461888G>A	uc003hlb.2	+	73	12089	c.11649G>A	c.(11647-11649)atG>atA	p.M3883I		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3878					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCACCAATATGAAGTCCCTGA	0.537000														16			3		0	0	1	0	0
APH1A	51107	broad.mit.edu	37	1	150238543	150238543	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:150238543G>A	uc001ety.2	-	6	1184	c.785C>T	c.(784-786)cCa>cTa	p.P262L	APH1A_uc001etz.2_3'UTR|APH1A_uc010pbx.2_Missense_Mutation_p.P192L|APH1A_uc010pby.2_3'UTR|APH1A_uc010pbz.2_3'UTR	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	262					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCCTCGGGTGGGATGCGCAG	0.637000														13			5		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8060512	8060512	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:8060512G>A	uc001mfy.3	+	0	333	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TUB_uc010rbk.2_Intron	NM_003320	NP_003311	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 1, mRNA.	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TGGCCCATGGGATCTCAGCAT	0.572000														30			19		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136923045	136923045	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:136923045A>C	uc003qhc.3	-	19	3113	c.2752T>G	c.(2752-2754)Tgt>Ggt	p.C918G	MAP3K5_uc011edj.2_Missense_Mutation_p.C165G|MAP3K5_uc011edk.1_Missense_Mutation_p.C763G	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	918	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGTTCAAAACATTTCAGTATG	0.398000														28			9		0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122716889	122716889	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:122716889G>A	uc001ucd.3	-	12	1808	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	565					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CTTCCAACTGGGAGAGAAATC	0.438000														74			32		0	0	1	0	0
ARL6	84100	broad.mit.edu	37	3	97486989	97486989	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:97486989T>C	uc003drv.3	+	2	351	c.38T>C	c.(37-39)cTg>cCg	p.L13P	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.L13P|ARL6_uc010hoy.3_Missense_Mutation_p.L13P	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	13					Wnt receptor signaling pathway|cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TTGCTTGGCCTGAAGAAGAAG	0.353000														45			15		0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85510672	85510672	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:85510672G>A	uc002soy.3	+	3	721	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	166	Pro-rich.				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CACAGTCAAGGACACGAGGTC	0.532000														152			23		0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127569356	127569356	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:127569356G>A	uc001ljf.1	-	0	529	c.38C>T	c.(37-39)tCt>tTt	p.S13F	DHX32_uc001ljg.1_Missense_Mutation_p.S13F	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	13						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCGTTTTTCAGAGGAAGAGTT	0.478000														16			65		0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111990157	111990157	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:111990157C>T	uc001tsj.3	-	4	1140	c.978G>A	c.(976-978)gaG>gaA	p.E326E	ATXN2_uc001tsh.3_Silent_p.E61E|ATXN2_uc001tsi.3_Silent_p.E37E|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Silent_p.E61E	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	326					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACAAAATACTCTCCATTATTT	0.373000														28			4		0	0	1	0	0
ITPA	3704	broad.mit.edu	37	20	3202489	3202490	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:3202489_3202490CC>TT	uc002wid.3	+	6	556_557	c.414_415CC>TT	c.(412-417)ggccgg>ggTTgg	p.R139W	ITPA_uc002wie.3_Missense_Mutation_p.R122W|ITPA_uc002wif.3_Non-coding_Transcript	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.	139					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						TGTGGCAGGGCCGGATCGTGGC	0.579000														31			29		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75369767	75369767	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:75369767G>A	uc004aiz.1	+	11	1248	c.708G>A	c.(706-708)tcG>tcA	p.S236S	TMC1_uc010moz.1_Silent_p.S194S|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.S90S|TMC1_uc010mpa.1_Silent_p.S90S	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	236					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAGGCATCGGCAGCAAACT	0.413000														15			13		0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65321711	65321712	+	Silent	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:65321711_65321712GG>AA	uc001oej.3	-	1	740_741	c.471_472CC>TT	c.(469-474)ggcctg>ggTTtg	p.157_158GL>GL	LTBP3_uc010roi.2_Silent_p.40_41GL>GL|LTBP3_uc001oei.3_Silent_p.157_158GL>GL|LTBP3_uc010roj.2_Intron|LTBP3_uc010rok.1_Silent_p.68_69GL>GL	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	157	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTCCTGCTCAGGCCGGGGCCTG	0.718000														14			4		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52943099	52943099	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:52943099C>T	uc003gzl.3	+	6	1191	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.R273W|SPATA18_uc003gzk.1_Missense_Mutation_p.R305W	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	305	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CCTCTTGTCCCGGTTCAGCGA	0.637000														11			20		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:22661206T>C	uc021wml.1	+	28		c.2217T>C			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGAATCATGCAGAATTTG	0.408000														45			7		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734183	15734183	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:15734183G>A	uc002nbi.3	+	7	977	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CYP4F8_uc010xoj.2_Missense_Mutation_p.E118K	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	306					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTGCTGAGCGAGGTGGGCCT	0.532000														21			26		0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49745267	49745267	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:49745267C>T	uc001rua.3	+	2	1409	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	DNAJC22_uc001rub.3_Silent_p.P336P	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.	336	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						CCAGGAAGCCCTGGGGATCCC	0.567000														17			8		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67709361	67709361	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:67709361G>A	uc002aqo.2	+	14	2287	c.2190G>A	c.(2188-2190)agG>agA	p.R730R	IQCH_uc002aqp.2_Silent_p.R391R|IQCH_uc002aqq.2_Silent_p.R387R|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	730										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CGACGTGGAGGAAATTCCTCC	0.463000														2			24		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395199	115395199	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:115395199G>A	uc003ebr.2	+	2	1152	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	GAP43_uc003ebq.2_Missense_Mutation_p.A124T	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	124					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	p.A159V(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGAGCAGGCAGCCCCCCAGGC	0.607000														11			18		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113536357	113536357	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:113536357C>T	uc001vsj.4	+	28	3643	c.3555C>T	c.(3553-3555)tcC>tcT	p.S1185S	ATP11A_uc001vsi.4_3'UTR|ATP11A_uc010ago.3_Non-coding_Transcript|ATP11A_uc021rmp.1_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	0					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCCCTAGGTCCCGTGTGGGAA	0.637000														98			17		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37528437	37528437	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:37528437C>T	uc003aqv.1	-	8	1021	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	297					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GACGTCTCCTCCATGCTCTGA	0.582000														9			19		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095982	124095982	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:124095982C>T	uc010saf.2	+	0	585	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	195						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTGATCTCTTCCCTCTCTTGG	0.428000														130			44		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153460	139153460	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:139153460G>T	uc003yuy.3	-	16	3942	c.3771C>A	c.(3769-3771)aaC>aaA	p.N1257K	FAM135B_uc003yux.3_Missense_Mutation_p.N1158K|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1257										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCAGGGTGCTGTTGTTGTACA	0.547000										HNSCC(54;0.14)				18			24		6.44725e-10	6.51516e-10	1	1	0
LOXL2	4017	broad.mit.edu	37	8	23217644	23217644	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:23217644G>A	uc003xdh.1	-	2	829	c.490C>T	c.(490-492)Cct>Tct	p.P164S	LOC100507156_uc003xdj.3_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	164					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTGAACCCAGGAATCCTTTTG	0.498000														20			19		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189691793	189691793	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:189691793C>T	uc011bsk.2	-	10	1841	c.1453_splice	c.e10-1	p.G485_splice	LEPREL1_uc003fsg.3_Splice_Site_p.G304_splice	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	485					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGCATGATTCCCTGGAAGCAA	0.403000														28			40		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742905	51742905	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:51742905G>A	uc002pwa.2	+	6	1097	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.D226N|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	353					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCCTTCCAAGGACACCTCCAC	0.532000														21			7		0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112309187	112309187	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:112309187C>T	uc001ebs.3	+	10	2498	c.2141C>T	c.(2140-2142)tCa>tTa	p.S714L	DDX20_uc010owf.2_Missense_Mutation_p.S476L|DDX20_uc001ebt.3_Missense_Mutation_p.S322L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	714					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATCAAGAATCACCTGGAATC	0.483000														76			34		0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39966033	39966033	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:39966033G>A	uc002hxu.3	-	4	1308	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	FKBP10_uc002hxv.2_5'Flank|LEPREL4_uc002hxt.3_Missense_Mutation_p.P281S	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	281	Asp/Glu-rich (acidic).				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCACATTGGGGGTCAAATTG	0.557000														8			40		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817500	23817500	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:23817500G>A	uc001wjl.3	-	4	945	c.708C>T	c.(706-708)ttC>ttT	p.F236F	SLC22A17_uc010akk.3_Silent_p.F18F|SLC22A17_uc001wjm.3_Silent_p.F236F|SLC22A17_uc001wjn.3_Non-coding_Transcript	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	236					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CGGACTCCAGGAACAAACCAG	0.617000														58			53		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262328	43262328	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:43262328G>A	uc002ouo.2	-	2	633	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Silent_p.L179L|PSG8_uc010ein.3_Silent_p.L57L|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	179	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATCCACCACAGGTAGCTTGCG	0.532000														191			109		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860602	13860602	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:13860602T>G	uc003bye.1	-	3	1194	c.889A>C	c.(889-891)Acg>Ccg	p.T297P		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	297					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGGGGAGCCGTCTTGTTGCAG	0.642000														30			18		0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136664568	136664568	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:136664568G>T	uc003erh.3	+	2	500	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	NCK1_uc011bme.2_Nonsense_Mutation_p.E60*	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	124	SH3 2.				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAGAGAGGATGAATTATCATT	0.458000														28			38		8.16277e-20	8.29242e-20	1	1	0
SHISA3	152573	broad.mit.edu	37	4	42403140	42403140	+	Missense_Mutation	SNP	C	T	T	rs140353032	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:42403140C>T	uc003gwp.3	+	1	607	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	130					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						AAGGAGCCCTCGCAGCAGCCA	0.582000														122			128		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782503	134782503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:134782503G>A	uc003lav.3	-	0	536	c.296C>T	c.(295-297)tCg>tTg	p.S99L		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	99						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCTTCACTCGAAAGATTGGA	0.592000														12			31		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42274097	42274097	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:42274097C>T	uc003bbi.3	+	8	1900	c.1731C>T	c.(1729-1731)caC>caT	p.H577H	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	577					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCTGGAGGCACCGGAAACAGG	0.552000														49			35		0	0	1	0	0
ZNF550	162972	broad.mit.edu	37	19	58059238	58059238	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:58059238C>T	uc002qpe.1	-	1	251	c.251G>A	c.(250-252)aGa>aAa	p.R84K	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G83W(1)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCCCTAGCTCTCCCCAACCT	0.527000														162			57		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103461554	103461554	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:103461554C>T	uc001dum.3	-	26	2640	c.2322G>A	c.(2320-2322)cgG>cgA	p.R774R	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Silent_p.R762R|COL11A1_uc001dun.3_Silent_p.R723R|COL11A1_uc009weh.3_Silent_p.R646R	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	762	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTTTACTCCCCGGGGGCCCG	0.383000														24			64		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241904893	241904893	+	Missense_Mutation	SNP	G	A	A	rs150454119		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:241904893G>A	uc001hzg.2	+	10	1574	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q	WDR64_uc021plh.1_Missense_Mutation_p.R250Q|WDR64_uc021pli.1_Missense_Mutation_p.R176Q	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	456										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTCATGAACGAGAAATCAAT	0.358000														20			33		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6730526	6730526	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:6730526G>A	uc003sqt.1	-	4	2601	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	ZNF12_uc011jxa.1_Missense_Mutation_p.H521Y|ZNF12_uc003sqs.1_Missense_Mutation_p.H645Y	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	683					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCTCTCCTATGAATTCTCTGA	0.373000														18			3		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36189078	36189078	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:36189078T>G	uc003gsq.2	-	7	2011	c.1673A>C	c.(1672-1674)aAa>aCa	p.K558T	ARAP2_uc003gsr.1_Missense_Mutation_p.K558T	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	558	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTCACCTTCTTTTTCTACTCT	0.289000														9			8		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183778032	183778032	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:183778032G>A	uc003fmk.3	+	8	1270	c.1236G>A	c.(1234-1236)atG>atA	p.M412I		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	412						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCAGCTAATGGAGCTGTGGG	0.597000														36			48		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119735424	119735424	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:119735424G>A	uc002tln.1	+	7	811	c.679G>A	c.(679-681)Gag>Aag	p.E227K	MARCO_uc010yyf.1_Missense_Mutation_p.E149K	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	227	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACCCCAAGGAGAGAAGGGCAG	0.582000														20			3		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79326090	79326090	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:79326090G>A	uc010mpk.3	-	7	1224	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	PRUNE2_uc022bih.1_Missense_Mutation_p.S189F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	367					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCTGTTGAGGATGTCCGGCT	0.532000														4			20		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9031030	9031030	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:9031030C>T	uc001apm.3	+	6	858	c.834C>T	c.(832-834)ttC>ttT	p.F278F	CA6_uc009vmn.3_Silent_p.F218F	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	278					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		AATCCAACTTCCCGAATCAGG	0.507000														80			16		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77387986	77387986	+	Silent	SNP	A	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:77387986A>T	uc001oyn.3	-	12	3312	c.3192T>A	c.(3190-3192)tcT>tcA	p.S1064S	RSF1_uc001oym.3_Silent_p.S812S	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	1064					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAAAATAGTAGAGATGTCTT	0.463000														42			12		0	0	1	0	0
TMEM178	130733	broad.mit.edu	37	2	39944345	39944345	+	Missense_Mutation	SNP	G	A	A	rs146286536		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:39944345G>A	uc002rrt.3	+	3	928	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	TMEM178_uc021vgg.1_Missense_Mutation_p.R101Q|TMEM178_uc010fam.2_Missense_Mutation_p.R237Q	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	283						integral to membrane		p.R283Q(2)		endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				TTTATTAGCCGGACCAAGATT	0.547000														31			57		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734744	37734744	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:37734744G>A	uc003xkm.2	-	1	753	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	RAB11FIP1_uc003xkn.2_Nonsense_Mutation_p.Q233*|RAB11FIP1_uc003xkp.1_Nonsense_Mutation_p.Q81*	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	233					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACATGGACTGGGAAAGAGGC	0.458000														81			54		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188700	24188700	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:24188700C>G	uc003xdy.3	+	11	1224	c.1141C>G	c.(1141-1143)Ctc>Gtc	p.L381V	ADAM28_uc003xdx.3_Missense_Mutation_p.L381V|ADAM28_uc011kzz.2_Missense_Mutation_p.L148V|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.L68V	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	381	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTGCAGCCGTCTCAGCTATGA	0.383000														73			51		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26013026	26013026	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:26013026C>T	uc001bkm.2	+	2	967	c.637_splice	c.e2+1	p.G213_splice	MAN1C1_uc009vry.1_Splice_Site_p.G33_splice	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	213					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GTAACATGTTCGGTGAGTCGA	0.498000														26			76		0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29030840	29030840	+	Splice_Site	SNP	A	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:29030840A>T	uc001bra.3	+	8	1040	c.898_splice	c.e8+1	p.D300_splice	GMEB1_uc001bqz.3_Splice_Site_p.D290_splice|GMEB1_uc001brb.3_Splice_Site_p.D290_splice	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAAGTCACAGGTAAGTGCA	0.468000														51			3		0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101476691	101476691	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:101476691C>T	uc003dvk.1	+	8	1268	c.1241C>T	c.(1240-1242)cCa>cTa	p.P414L	CEP97_uc010hpm.1_Missense_Mutation_p.P380L|CEP97_uc011bhf.1_Missense_Mutation_p.P355L|CEP97_uc003dvl.1_Missense_Mutation_p.P110L|CEP97_uc003dvm.1_Missense_Mutation_p.P252L	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	414	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GGACTGTCTCCACTATCACCT	0.478000														18			18		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087903	47087903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:47087903C>T	uc001jee.3	+	2	1539	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.P374S|PPYR1_uc021ppu.1_Missense_Mutation_p.P374S	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	374					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.P374L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGGTCCAATCCCATTTAACC	0.592000														42			24		0	0	1	0	0
X06774	0	broad.mit.edu	37	7	38370122	38370122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:38370122C>T	uc010kxj.1	-	1	312	c.176G>A	c.(175-177)gGg>gAg	p.G59E	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		TGGGGCCTTCCCCTCCTGGTG	0.483000														37			29		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166847987	166847987	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:166847987C>T	uc002udo.4	-	27	6025	c.5798G>A	c.(5797-5799)cGa>cAa	p.R1933Q	SCN1A_uc010fpk.3_Missense_Mutation_p.R1905Q|SCN1A_uc021vsb.1_Missense_Mutation_p.R1922Q	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1933						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1922Q(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTTACAGTTCGCTTTAAAAG	0.353000														44			30		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731972	6731972	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:6731972G>A	uc003sqt.1	-	4	1155	c.601C>T	c.(601-603)Cta>Tta	p.L201L	ZNF12_uc011jxa.1_Silent_p.L39L|ZNF12_uc003sqs.1_Silent_p.L163L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	201					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TCTTCATTTAGAGTATAAGGT	0.338000														8			4		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40698	40698	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrGL000218.1:40698G>A	uc011mfn.2	-	2	321	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	LOC100233156_uc003jah.2_Missense_Mutation_p.R78C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TCACAGCGGCGCCCGAAGGCC	0.672000														13			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064917	9064917	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9064917G>A	uc002mkp.3	-	2	22733	c.22529C>T	c.(22528-22530)aCc>aTc	p.T7510I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7512	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATGGAGATGGTACCCATTGC	0.473000														39			23		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118779354	118779354	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:118779354G>A	uc001pug.3	-	1	1002	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	BCL9L_uc009zal.3_Intron|MIR4492_uc021qrh.1_5'Flank	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	13					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTCCTCCTGGGGTGGGGTAAC	0.582000														26			13		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113919767	113919767	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:113919767G>A	uc009xxy.2	-	16	2014	c.1804C>T	c.(1804-1806)Ccc>Tcc	p.P602S	GPAM_uc001kzp.3_Missense_Mutation_p.P602S|GPAM_uc001kzq.1_Missense_Mutation_p.P602S	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	602					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GTGCTAGTGGGACCCCCCAGT	0.522000														13			33		0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159206477	159206477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:159206477G>A	uc003qrt.4	-	3	546	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	EZR_uc011efs.2_Missense_Mutation_p.L79F|EZR_uc003qru.4_Missense_Mutation_p.L111F	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	111	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCATCGCTAAGGATTCCTTCC	0.527000			T	ROS1	NSCLC									18			23		0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170072375	170072375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:170072375C>T	uc003qwx.3	-	2	827	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	WDR27_uc021zio.1_Missense_Mutation_p.E103K|WDR27_uc003qwy.3_Missense_Mutation_p.E103K|WDR27_uc011egw.1_Non-coding_Transcript|WDR27_uc010kkx.3_Missense_Mutation_p.E103K	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	103										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TCTCTACATTCATCCAGGTTC	0.363000														13			4		0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6787562	6787563	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:6787562_6787563GG>AA	uc010sfh.2	-	5	686_687	c.416_417CC>TT	c.(415-417)acc>aTT	p.T139I	ZNF384_uc001qqa.3_Missense_Mutation_p.T139I|ZNF384_uc001qqd.3_Intron|ZNF384_uc009zew.1_5'UTR	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						AAATGGGGAAGGTCTGAGCTGA	0.545000			T	"""EWSR1, TAF15 """	ALL									10			7		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128934408	128934408	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:128934408C>T	uc002tps.3	+	31	3738	c.3560C>T	c.(3559-3561)cCc>cTc	p.P1187L	UGGT1_uc002tpr.3_Missense_Mutation_p.P1163L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1187					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTGATTCTCCCCCTGATGCT	0.413000														44			116		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23718370	23718370	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:23718370G>A	uc002dma.4	-	4	650	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	ERN2_uc010bxp.3_Missense_Mutation_p.H161Y|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	113					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGAGAGGCATGAACCAGCTCA	0.552000														19			15		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201293662	201293662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:201293662C>T	uc001gwd.3	+	10	2101	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	PKP1_uc001gwe.3_Missense_Mutation_p.S596F|PKP1_uc009wzm.3_Missense_Mutation_p.S204F	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	617					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TCCGGAGCCTCCCTCCTGAGC	0.592000														55			7		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96773201	96773201	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:96773201G>A	uc001yfi.3	-	29	4721	c.4356C>T	c.(4354-4356)ttC>ttT	p.F1452F		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1452										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGGAAACAGGAAGAGGTCTG	0.433000														11			17		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307759	14307759	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:14307759C>T	uc021war.1	-	0	394	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.E132K|FLRT3_uc002wow.2_Missense_Mutation_p.E132K	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	132					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAATGTAATTCTTCCAGATAG	0.388000														47			87		0	0	1	0	0
DUSP11	8446	broad.mit.edu	37	2	74002123	74002123	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:74002123G>A	uc002sjp.3	-	2	409	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F	DUSP11_uc002sjq.4_Missense_Mutation_p.L123F	NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	76					RNA processing	nucleus	RNA binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TTGTTAAAAAGATCCAAAGGG	0.343000														35			9		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39114840	39114840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:39114840G>A	uc003xmt.4	+	18	2385	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	ADAM32_uc011lch.2_Missense_Mutation_p.E615K|ADAM32_uc003xmu.4_Missense_Mutation_p.E608K|ADAM32_uc003xmv.3_Missense_Mutation_p.E138K	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	714					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTTCGCCAAGGAAGAGGAATT	0.383000														38			36		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102467310	102467310	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:102467310C>T	uc001yks.2	+	18	4258	c.4094C>T	c.(4093-4095)gCc>gTc	p.A1365V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1365	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AATTTGGATGCCCTCCTGAAC	0.418000														95			35		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72818806	72818806	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:72818806G>A	uc001xna.4	+	2	611	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	RGS6_uc021rvv.1_5'UTR|RGS6_uc010ttn.2_Missense_Mutation_p.E30K|RGS6_uc021rvw.1_Missense_Mutation_p.E30K|RGS6_uc021rvx.1_Missense_Mutation_p.E30K|RGS6_uc021rvy.1_Missense_Mutation_p.E30K|RGS6_uc021rvz.1_Missense_Mutation_p.E30K|RGS6_uc001xmy.4_Missense_Mutation_p.E30K|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.E30K|RGS6_uc021rwa.1_Missense_Mutation_p.E30K|RGS6_uc021rwb.1_Missense_Mutation_p.E30K	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	30					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTTTCAGATTGAAGACATCAT	0.378000														15			5		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72891688	72891688	+	Silent	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:72891688A>C	uc003tyc.3	-	6	2455	c.2103T>G	c.(2101-2103)gtT>gtG	p.V701V		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	701					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTCCTCCTGAACATCAGATC	0.473000														29			28		0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9793534	9793535	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:9793534_9793535AC>TT	uc003bsi.3	+	2	809_810	c.466_467AC>TT	c.(466-468)act>TTt	p.T156F	OGG1_uc003bsj.3_Missense_Mutation_p.T156F|OGG1_uc003bsh.3_Missense_Mutation_p.T156F|OGG1_uc003bsl.3_Missense_Mutation_p.T156F|OGG1_uc003bsk.3_Missense_Mutation_p.T156F|OGG1_uc003bsm.3_Missense_Mutation_p.T156F|OGG1_uc003bsn.3_Missense_Mutation_p.T156F|OGG1_uc003bso.3_Missense_Mutation_p.T156F|OGG1_uc003bsr.2_5'UTR|OGG1_uc010hcm.2_5'UTR|OGG1_uc003bsq.2_5'UTR|OGG1_uc003bsp.2_5'UTR	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	156					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CGCCCGCATCACTGGCATGGTG	0.569000								Base excision repair (BER), DNA glycosylases						46			66		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19428062	19428062	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:19428062G>A	uc022btq.1	-	11	1728	c.1728C>T	c.(1726-1728)gcC>gcT	p.A576A	MAP3K15_uc004czj.2_Silent_p.A11A|MAP3K15_uc004czk.2_Missense_Mutation_p.L19F	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	576							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTATGGAAGAGGCTGTAAAAT	0.299000														6			13		0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53436077	53436077	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:53436077G>A	uc004dsg.3	-	8	1530	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	SMC1A_uc011moe.2_Silent_p.A465A|SMC1A_uc011mof.2_Silent_p.A253A	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	487					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GGTCGATGCGGGCATCCCCTA	0.572000														4			20		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698588	17698588	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:17698588C>T	uc002rcl.1	-	0	1119	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	RAD51AP2_uc010exn.1_Silent_p.K356K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	365										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGCGAAATTCTTTCTAGAGT	0.388000														66			11		0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38173449	38173449	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:38173449G>A	uc003cht.3	-	3	578	c.371C>T	c.(370-372)tCg>tTg	p.S124L	ACAA1_uc003chu.3_Missense_Mutation_p.S124L	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	124					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TAGCCCCGACGAACACTGTCT	0.542000											OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179391822	179391822	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:179391822C>T	uc021vsy.1	-	311	100414	c.100189G>A	c.(100189-100191)Gat>Aat	p.D33397N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D27092N|TTN_uc021vta.1_Missense_Mutation_p.D27025N|TTN_uc021vtb.1_Missense_Mutation_p.D26900N|TTN_uc002umq.3_Missense_Mutation_p.D313N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34324							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCCACCATCTTGTTTCTGT	0.438000														19			22		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869200	36869200	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:36869200C>T	uc002xhy.1	-	2	1605	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	KIAA1755_uc002xhz.1_Missense_Mutation_p.E445K	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	445										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCATTTCTCTCTTTGGTCTTC	0.577000														99			39		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862813	5862813	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:5862813G>A	uc010qzq.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L104I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAATGGATGAAGAACATCT	0.458000														87			29		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129871681	129871681	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:129871681G>A	uc009yat.3	+	17	1995	c.1578G>A	c.(1576-1578)tgG>tgA	p.W526*	PTPRE_uc001lkb.3_Nonsense_Mutation_p.W515*|PTPRE_uc009yau.2_Nonsense_Mutation_p.W515*|PTPRE_uc001lkd.3_Nonsense_Mutation_p.W457*|PTPRE_uc010quq.1_Nonsense_Mutation_p.W416*	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	515	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGATGATCTGGGAATGGAAAT	0.602000														8			24		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139712376	139712376	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:139712376G>A	uc003yvd.3	-	31	3018	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F	COL22A1_uc011ljo.2_Silent_p.F157F	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	857	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATGTGGTGTGAACAGGGATG	0.527000										HNSCC(7;0.00092)				8			3		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806719	143806719	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:143806719G>A	uc011ktz.2	+	0	44	c.44G>A	c.(43-45)gGa>gAa	p.G15E		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACCCTGCTGGGATTCCAGGTT	0.522000														32			27		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253153	124253153	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:124253153G>A	uc010sai.2	-	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTAGAAACAGGAAAAAGAGGG	0.413000														85			19		0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766203	27766203	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:27766203G>A	uc011mjy.2	+	0	1278	c.1191G>A	c.(1189-1191)agG>agA	p.R397R		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATGACCAGAGGAAAATTGATA	0.393000														5			10		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174481	63174481	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:63174481C>T	uc001xfx.3	-	10	2763	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	904					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCTGTAAGGCCTGCTCGGGGA	0.552000														97			38		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6732100	6732100	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:6732100C>G	uc003sqt.1	-	4	1027	c.473G>C	c.(472-474)gGa>gCa	p.G158A	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.G120A	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	158					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGCATAGCTTCCATCACTACT	0.373000														33			14		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31202348	31202348	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:31202348C>T	uc002ebf.3	+	13	1563	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G	FUS_uc002ebe.2_Silent_p.G482G|FUS_uc002ebg.3_Silent_p.G281G|FUS_uc002ebh.3_Silent_p.G485G	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	486	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GCTACCGGGGCCGCGGCGGGG	0.587000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									45			29		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447818	63447818	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:63447818G>A	uc001xfx.3	-	5	765	c.714C>T	c.(712-714)ttC>ttT	p.F238F	KCNH5_uc001xfy.3_Silent_p.F238F|KCNH5_uc001xfz.1_Silent_p.F180F|KCNH5_uc001xga.3_Silent_p.F180F	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCTTTGTTTTGAAGGAAACAT	0.363000														21			27		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183006964	183006964	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:183006964C>T	uc003fli.1	-	13	1810	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	MCF2L2_uc003flj.1_Missense_Mutation_p.E574K|MCF2L2_uc011bqr.1_Non-coding_Transcript|BC013229_uc003fln.1_Intron	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	574					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AACTCTGTCTCCGTATAAGGT	0.398000														10			9		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770138	53770138	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:53770138T>A	uc010ydu.2	-	0	781	c.781A>T	c.(781-783)Aat>Tat	p.N261Y		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	261					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CTATTGGGATTATCCAAAAGA	0.458000										HNSCC(26;0.072)				23			9		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127942	117127942	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:117127942G>A	uc003pxj.1	-	2	948	c.926C>T	c.(925-927)aCc>aTc	p.T309I	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.T309I	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	309					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GGTAATCTTGGTGGCAGTTGA	0.343000														46			11		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23712304	23712304	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:23712304C>T	uc002dma.4	-	11	1648	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	ERN2_uc010bxp.3_Intron|ERN2_uc010bxq.1_Silent_p.G301G	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	445					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGAGAATCCACCCTCCCAGGA	0.572000														45			25		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119941138	119941138	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:119941138C>T	uc003yon.4	-	2	754	c.431G>A	c.(430-432)aGa>aAa	p.R144K	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	144					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATCTGGACATCTTTTGCAAAC	0.428000														44			30		0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144474	65144474	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:65144474C>T	uc001odr.1	-	5	617	c.413G>A	c.(412-414)gGg>gAg	p.G138E	SLC25A45_uc009yqi.1_Missense_Mutation_p.G76E|SLC25A45_uc001odq.1_Missense_Mutation_p.G114E|SLC25A45_uc001ods.1_Missense_Mutation_p.G96E|SLC25A45_uc001odt.1_Missense_Mutation_p.G96E	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	138					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGGGGGGCTCCCTGGCTGGGC	0.657000														19			26		0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66625721	66625721	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:66625721C>T	uc001ojr.3	+	0	846	c.506C>T	c.(505-507)cCt>cTt	p.P169L	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.P169L	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	169						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GGCGCCATGCCTGCCCTGCAC	0.667000														23			34		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41043859	41043859	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:41043859C>T	uc004dfb.3	+	22	4122	c.3489C>T	c.(3487-3489)ggC>ggT	p.G1163G	USP9X_uc004dfc.3_Silent_p.G1163G	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1163					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTGCCATTGGCTATGGTCATG	0.423000														1			10		0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183860544	183860544	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:183860544G>A	uc002upc.3	-	6	1028	c.626C>T	c.(625-627)tCt>tTt	p.S209F	NCKAP1_uc002upb.3_Missense_Mutation_p.S215F	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	209					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATTTGAAGAGAAATTAGTGC	0.358000														10			24		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262351	61262351	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:61262351T>C	uc010xep.2	+	6	899	c.731T>C	c.(730-732)aTt>aCt	p.I244T	SERPINB13_uc002ljc.3_Missense_Mutation_p.I235T|SERPINB13_uc002ljd.3_Missense_Mutation_p.I99T|SERPINB13_uc010xeq.2_Missense_Mutation_p.I56T|SERPINB13_uc010xer.2_Missense_Mutation_p.I56T	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	235					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATTCTAGGGATTCCATATAAA	0.428000														53			43		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008170	121008170	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:121008170C>T	uc010rzo.2	+	9	2982	c.2982C>T	c.(2980-2982)atC>atT	p.I994I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	994	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGGAGTGCATCACATGTACAG	0.537000														36			15		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56611435	56611435	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:56611435C>T	uc002rzn.3	+	5	2109	c.1607C>T	c.(1606-1608)tCg>tTg	p.S536L	CCDC85A_uc021vhw.1_Non-coding_Transcript	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	536										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTGCAGGTTCGTGTCCTGGA	0.408000														11			26		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56403074	56403074	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:56403074C>T	uc002ivx.4	-	4	1442	c.571_splice	c.e4-1	p.V191_splice	BZRAP1_uc010dcs.3_Intron|BZRAP1_uc010wnt.2_Splice_Site_p.V191_splice|LOC100506779_uc021uan.1_Non-coding_Transcript	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	191						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGCACTCACCTAGCCAGAG	0.632000														17			17		0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68658813	68658813	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:68658813G>A	uc001ooi.3	-	6	629	c.604C>T	c.(604-606)Ccg>Tcg	p.P202S	MRPL21_uc001ooh.3_Missense_Mutation_p.P117S	NM_181514	NP_852616	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	202					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AACAAACACGGAGCAATCTCA	0.458000														51			60		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119452210	119452210	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:119452210G>A	uc003ede.4	+	10	1279	c.1202_splice	c.e10-1	p.G401_splice	C3orf15_uc010hqy.2_Splice_Site_p.G401_splice|C3orf15_uc010hqz.3_Splice_Site_p.G339_splice|C3orf15_uc011bjd.2_Splice_Site_p.G275_splice|C3orf15_uc011bje.2_Splice_Site_p.G381_splice|C3orf15_uc010hra.2_Splice_Site_p.G162_splice	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	0						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CCTTCCCATAGGATTAGTGGA	0.373000														31			11		0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119509512	119509512	+	Missense_Mutation	SNP	C	T	T	rs143612966	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:119509512C>T	uc001pwu.1	-	6	1328	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N		NM_203285	NP_976030	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 2, mRNA.	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AGGGGCTGGTCGGTCCTGGAG	0.627000														11			8		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95679660	95679660	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:95679660G>A	uc001yef.2	-	5	620	c.504C>T	c.(502-504)tcC>tcT	p.S168S		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	168	Actin-binding.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGGGTGGGAAGGATGAGTCTG	0.552000														23			36		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37618062	37618062	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:37618062C>T	uc003onu.1	-	7	2611	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	478	Ig-like 5.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCCTTGTCCACGCGGGACCAG	0.716000														5			5		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750792	119750792	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:119750792G>A	uc002tln.1	+	15	1477	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	MARCO_uc010yyf.1_Missense_Mutation_p.D371N	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	449	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.D449D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AATTTGCGATGACGAGTGGCA	0.522000														157			31		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284396	47284396	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:47284396G>A	uc001cqn.4	+	11	1533	c.1449G>A	c.(1447-1449)cgG>cgA	p.R483R	CYP4B1_uc001cqm.4_Silent_p.R482R|CYP4B1_uc009vym.3_Silent_p.R468R|CYP4B1_uc010omk.2_Silent_p.R319R	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	482					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ACCCCTCACGGCTGCCCATCA	0.572000														89			78		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111088644	111088644	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:111088644G>A	uc001vqx.3	+	12	1044	c.755G>A	c.(754-756)gGg>gAg	p.G252E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	252	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGACCCAACGGGATTCCATCA	0.463000														19			15		0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49935843	49935843	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:49935843G>A	uc002pnp.3	-	8	1255	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	SLC17A7_uc002pno.3_Silent_p.I60I	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	361					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGAAGTCCGCGATCTGGCCGC	0.657000														9			20		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57372418	57372418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:57372418G>A	uc001cyo.2	+	7	1307	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	392	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATGTTGGTGGAGGTTTATCA	0.413000														102			15		0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27210669	27210669	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:27210669G>A	uc001bnd.1	-	3	1124	c.842C>T	c.(841-843)gCc>gTc	p.A281V	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	281							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						ATGGAAGTCGGCTCCCATTGC	0.537000														42			27		0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593125	7593125	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:7593125C>T	uc002mgo.3	+	6	1000	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	MCOLN1_uc002mgp.3_Missense_Mutation_p.P252S	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	287					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGTAAGCACCCCAGTGTCTT	0.642000														26			18		0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55540610	55540610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:55540610G>A	uc003tqs.3	-	4	640	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	VOPP1_uc003tqq.3_Missense_Mutation_p.P144S|VOPP1_uc010kzh.3_Missense_Mutation_p.P150S|VOPP1_uc010kzi.3_Missense_Mutation_p.P136S|VOPP1_uc011kcr.2_Missense_Mutation_p.P85S	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	153	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						GCTGGAGGGGGCGGGCAGGCC	0.647000														6			3		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51863496	51863496	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:51863496G>A	uc010xdt.2	-	3	267	c.267_splice	c.e3+1	p.S89_splice		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	89	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ACAAATTACCGAATCAATCCT	0.308000														28			23		0	0	1	0	0
CD320	51293	broad.mit.edu	37	19	8367350	8367350	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:8367350G>A	uc002mjj.2	-	4	912	c.846C>T	c.(844-846)ccC>ccT	p.P282P	CD320_uc002mjl.2_Silent_p.P240P|CD320_uc002mjk.2_Non-coding_Transcript	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	Homo sapiens CD320 molecule (CD320), transcript variant 1, mRNA.	282					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						CTTGTCCTCAGGGCAGCGAGG	0.642000														60			15		0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9226086	9226086	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:9226086C>T	uc021uoi.1	-	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I	OR7G1_uc002mks.1_Missense_Mutation_p.M118I	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGTCGTAGGCCATGACTGCAA	0.488000														63			23		0	0	1	0	0
ATP1B1	481	broad.mit.edu	37	1	169080704	169080704	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:169080704A>G	uc001gfr.1	+	1	315	c.194A>G	c.(193-195)aAg>aGg	p.K65R		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	65					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AGTGAATTTAAGCCCACATAT	0.443000														26			69		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152382699	152382699	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:152382699C>T	uc021vrb.1	-	119	16949	c.16920G>A	c.(16918-16920)gcG>gcA	p.A5640A	NEB_uc002txr.3_Silent_p.A2106A|NEB_uc002txu.3_Silent_p.A7341A|NEB_uc021vrc.1_Silent_p.A7341A|NEB_uc010fnx.3_Silent_p.A5628A|NEB_uc021vrd.1_Silent_p.A5640A|NEB_uc002txt.4_Silent_p.A145A	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5640					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGACAGTCTTCGCCAGCAGGA	0.552000														41			12		0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51589802	51589802	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:51589802G>A	uc001rxy.3	-	1	392	c.200C>T	c.(199-201)cCt>cTt	p.P67L	POU6F1_uc001rxz.3_Missense_Mutation_p.P67L|POU6F1_uc001rya.3_Missense_Mutation_p.P67L	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	67	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GACAGCCACAGGTGGAGGCAG	0.672000														8			7		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65627166	65627166	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:65627166G>A	uc002aos.2	-	4	975	c.723C>T	c.(721-723)ctC>ctT	p.L241L		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	241	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGCCCCACGAGGATGGCTG	0.657000														3			16		0	0	1	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656197	29656197	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:29656197G>A	uc003aeq.1	-	6	1385	c.1013C>T	c.(1012-1014)cCt>cTt	p.P338L		NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	338	UBA.					integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						CTGCTCCGTAGGGAAGCCCAT	0.677000														7			4		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374645	8374645	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:8374645G>A	uc001qui.2	-	6	1727	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	FAM90A1_uc001quh.2_Nonsense_Mutation_p.Q390*	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	390							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTGAGAGGCTGGGCCCCATCA	0.647000														18			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649090	113649090	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:113649090C>T	uc003ynu.3	-	21	3830	c.3671G>A	c.(3670-3672)gGt>gAt	p.G1224D	CSMD3_uc003yns.3_Missense_Mutation_p.G496D|CSMD3_uc003ynt.3_Missense_Mutation_p.G1184D|CSMD3_uc011lhx.2_Missense_Mutation_p.G1120D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1224	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCGGCCACCACCAAGACAGAT	0.512000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				40			32		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43905651	43905652	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:43905651_43905652CC>TT	uc001cjk.2	+	49	7055_7056	c.4445_4446CC>TT	c.(4444-4446)gcc>gTT	p.A1482V		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2381						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTCGCCAGGCCCTGGCCGATG	0.574000														55			36		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346474	70346474	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:70346474G>A	uc003hek.4	-	5	1512	c.1465C>T	c.(1465-1467)Cac>Tac	p.H489Y	UGT2B4_uc011cap.2_Missense_Mutation_p.H353Y|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	489					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCCAAAGAGTGGTACTGGAAC	0.498000														54			65		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555832	45555832	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:45555832C>T	uc010dnv.3	-	3	2161	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	ZBTB7C_uc002ldb.3_Silent_p.E553E|ZBTB7C_uc010dnu.3_Silent_p.E562E|ZBTB7C_uc010dnw.3_Silent_p.E553E	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	553						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCATCTGTGTCTCCTCGAACT	0.726000														6			15		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8604862	8604862	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:8604862C>T	uc002mkg.3	-	15	1799	c.1661G>A	c.(1660-1662)gGg>gAg	p.G554E		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	554	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCTGGGGCGCCCCTTCTTGTC	0.642000														27			8		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540237	28540237	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:28540237C>T	uc003nlo.3	-	3	4047	c.3429G>A	c.(3427-3429)tgG>tgA	p.W1143*		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1143					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttctgtttttccaagcttcta	0.303000														21			22		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				31			144		4.52276e-68	4.62178e-68	1	1	0
LGR5	8549	broad.mit.edu	37	12	71946958	71946958	+	Silent	SNP	C	T	T	rs149369154	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:71946958C>T	uc001swl.3	+	4	582	c.534C>T	c.(532-534)ccC>ccT	p.P178P	LGR5_uc001swm.3_Silent_p.P178P|LGR5_uc021rar.1_Intron|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	178						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAGAAATCCCCGTCCAGGCTT	0.502000														52			15		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33140832	33140832	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:33140832C>T	uc001iwm.1	+	18	1970	c.1734C>T	c.(1732-1734)caC>caT	p.H578H	C10orf68_uc001iwl.1_Silent_p.H533H|C10orf68_uc001iwn.4_Silent_p.H574H|C10orf68_uc010qei.1_Silent_p.H550H|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	574										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAGACATCCACCTTCCTTTAC	0.328000														18			51		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422168	31422168	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:31422168G>A	uc010cap.1	+	11	1374	c.1325G>A	c.(1324-1326)tGg>tAg	p.W442*	ITGAD_uc002ebv.1_Nonsense_Mutation_p.W442*	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	442					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCAGGCAATGGAGGAAGAAG	0.652000														46			30		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78392252	78392252	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:78392252C>T	uc001xui.3	+	8	1253	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.S317L|ADCK1_uc001xul.3_Missense_Mutation_p.S92L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	392	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACGGCGCGATCGTGGGACTCG	0.602000														185			54		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787096	121787096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:121787096G>A	uc003ksw.1	+	9	2760	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E410K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E486K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E899K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E486K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E448K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E486K|SNCAIP_uc003kta.1_Missense_Mutation_p.E484K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E546K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E792K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E368K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	852					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACAAGTAACGAATCGGGGGA	0.478000														12			27		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95111581	95111581	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:95111581G>A	uc001kin.3	-	32	3627	c.3504C>T	c.(3502-3504)ttC>ttT	p.F1168F	MYOF_uc001kio.3_Silent_p.F1155F|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1168	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCGATGGAGGAAACAGATAT	0.438000														12			37		0	0	1	0	0
RABL5	64792	broad.mit.edu	37	7	100961490	100961490	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:100961490G>A	uc003uyl.3	-	2	224	c.121C>T	c.(121-123)Cta>Tta	p.L41L	RABL5_uc011kkk.2_5'UTR|RABL5_uc011kkl.2_5'UTR|RABL5_uc003uym.3_Intron|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Silent_p.L41L	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	41							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					TCAAATTCTAGGATCCTAAAA	0.507000														93			89		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211645	78211645	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:78211645G>A	uc010bky.2	-	10	886	c.122C>T	c.(121-123)tCc>tTc	p.S41F						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		GGGCGCCAGGGATAGGGGCTC	0.522000														3			34		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114688	186114688	+	Missense_Mutation	SNP	A	G	G	rs142044852		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:186114688A>G	uc001grq.1	+	91	14649	c.14420A>G	c.(14419-14421)aAc>aGc	p.N4807S	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.N376S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4807	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGAGGTGCAACACTGACATG	0.517000														28			10		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303799	45303799	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:45303799G>A	uc003jok.3	-	5	1545	c.1520C>T	c.(1519-1521)gCc>gTc	p.A507V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	507						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTACCCACGGCTCCTTCTCG	0.403000														14			82		0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576082	115576082	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:115576082G>A	uc001efs.1	+	1	167	c.99G>A	c.(97-99)agG>agA	p.R33R		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	33					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	p.E32K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACATCGAAAGGAGAGAGTGTG	0.423000														40			83		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35740308	35740308	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:35740308C>T	uc003jjo.3	+	22	3380	c.3269C>T	c.(3268-3270)tCc>tTc	p.S1090F	SPEF2_uc003jjp.1_Missense_Mutation_p.S576F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1090					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTTCAACTCCCTTCCTGAT	0.438000														14			84		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394808	86394808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:86394808C>T	uc003uid.3	+	1	1446	c.347C>T	c.(346-348)tCt>tTt	p.S116F	GRM3_uc010lef.3_Missense_Mutation_p.S114F|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	116					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCAGGGCATCTTTGACAAAA	0.443000														45			35		0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582847	51582847	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:51582847C>T	uc021uyk.1	-	4	592	c.373G>A	c.(373-375)Gac>Aac	p.D125N	KLK14_uc002pvs.1_Missense_Mutation_p.D125N	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	125	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		AGGTCGTTGTCGTGGGTCCGG	0.667000														21			8		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46808528	46808528	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:46808528G>A	uc002peh.3	+	2	275	c.244G>A	c.(244-246)Gga>Aga	p.G82R	HIF3A_uc002pef.2_Missense_Mutation_p.G82R|HIF3A_uc002peg.4_Missense_Mutation_p.G82R|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.G26R|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Intron|HIF3A_uc002pel.3_Missense_Mutation_p.G80R|HIF3A_uc010xxz.2_Intron	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	82	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGGAGCAGGGGGAGAACCACT	0.607000														42			24		0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55637460	55637460	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:55637460G>A	uc001xbs.3	-	10	1564	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	DLGAP5_uc001xbt.3_Silent_p.F449F	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	449					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	p.C448Y(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTCCCACTCGAAGCAATGTG	0.338000														24			33		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57246934	57246934	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:57246934G>T	uc003pdx.3	+	6	748	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	PRIM2_uc003pdw.3_Nonsense_Mutation_p.E221*	NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	221					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CATCCTGAATGAATTTAGAGC	0.393000														51			6		8.12818e-05	8.17077e-05	1	1	0
SGSM1	129049	broad.mit.edu	37	22	25294056	25294056	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:25294056C>T	uc003abg.2	+	19	2462	c.2305C>T	c.(2305-2307)Cat>Tat	p.H769Y	SGSM1_uc010guu.1_Missense_Mutation_p.H714Y|SGSM1_uc003abh.2_Missense_Mutation_p.H708Y|SGSM1_uc003abj.2_Missense_Mutation_p.H653Y|SGSM1_uc003abi.1_Missense_Mutation_p.H689Y	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	769	Rab-GAP TBC.					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						AGACTCGGGTCATCCTTCCTC	0.582000														21			26		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6750866	6750866	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:6750866G>A	uc002wmu.1	+	1	878	c.93G>A	c.(91-93)agG>agA	p.R31R		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	31					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TGGGCCGCAGGAAGTTCGCGG	0.692000														11			5		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61823307	61823307	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:61823307G>A	uc002eog.2	-	7	2312	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	CDH8_uc002eoh.3_Missense_Mutation_p.P222S	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	453	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTGTCAAGTGGTGTTGCCAGC	0.428000														34			17		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67399163	67399163	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:67399163C>T	uc001omp.3	-	7	1159	c.1071G>A	c.(1069-1071)agG>agA	p.R357R	NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	357					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CTCCTTGATCCCTATCAGCCC	0.652000														8			5		0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389466	57389466	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:57389466C>T	uc021qzf.1	+	0	473	c.473C>T	c.(472-474)gCc>gTc	p.A158V	GPR182_uc001smk.3_Missense_Mutation_p.A158V	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	158						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTCACCAGCGCCTCCCCCTCC	0.602000														36			20		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54264797	54264797	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:54264797G>A	uc004dtc.2	-	18	4431	c.3992C>T	c.(3991-3993)tCa>tTa	p.S1331L	WNK3_uc004dtd.2_Missense_Mutation_p.S1284L	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1284					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.G1330V(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CCGCTGAAATGATCCACTCAT	0.443000														5			21		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34667734	34667734	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:34667734G>A	uc001bxt.3	+	3	2158	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	C1orf94_uc001bxs.4_Silent_p.G250G	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	250							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTACACAGGGAATGTTTTCA	0.537000														65			17		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69703821	69703821	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:69703821G>A	uc010kak.3	+	9	2172	c.1896G>A	c.(1894-1896)agG>agA	p.R632R	BAI3_uc003pev.4_Silent_p.R632R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	632					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATTTAAAAGGGCAAGTTACA	0.443000														53			14		0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418790	43418790	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:43418790C>T	uc003ova.3	-	5	848	c.639G>A	c.(637-639)ctG>ctA	p.L213L	DLK2_uc003ovb.3_Silent_p.L213L	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	213	EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACAGTCATCCAGGTTGATGG	0.627000														24			54		0	0	1	0	0
RABL2A	11159	broad.mit.edu	37	2	114398994	114398994	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:114398994C>T	uc002tks.4	+	7	615	c.474C>T	c.(472-474)ttC>ttT	p.F158F	RABL2A_uc002tkn.4_Silent_p.F157F|RABL2A_uc010flb.3_Silent_p.F157F|RABL2A_uc002tkm.4_Silent_p.F94F|RABL2A_uc002tkr.3_Silent_p.F158F|RABL2A_uc002tkp.4_Silent_p.F158F	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	157					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CCCTGTATTTCGTCTCGGCTG	0.498000														52			27		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46494567	46494567	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:46494567G>T	uc001cov.3	+	17	2463	c.2180G>T	c.(2179-2181)gGa>gTa	p.G727V	MAST2_uc001cow.3_Missense_Mutation_p.G727V|MAST2_uc001coy.1_Missense_Mutation_p.G401V|MAST2_uc001coz.1_Missense_Mutation_p.G612V|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	727	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCTTTTTTTGGAGATACTCCG	0.547000														78			200		9.07414e-75	9.2783e-75	1	1	0
NTN4	59277	broad.mit.edu	37	12	96104369	96104369	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:96104369C>T	uc001tei.3	-	4	1479	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	NTN4_uc009ztf.3_Missense_Mutation_p.D344N|NTN4_uc009ztg.3_Missense_Mutation_p.D307N	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	344	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane		p.F343F(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACATTAACGTCGAAGTGACAG	0.458000														36			7		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119026174	119026174	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:119026174C>T	uc003ibx.3	+	3	1385	c.982_splice	c.e3-1	p.A328_splice	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	328	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTATTTCAGGCCCTGCTTGAT	0.333000														55			14		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11943102	11943103	+	Missense_Mutation	DNP	CC	TT	TT	rs113391634		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:11943102_11943103CC>TT	uc010yjm.2	+	15	2156_2157	c.2103_2104CC>TT	c.(2101-2106)ctccct>ctTTct	p.P702S	LPIN1_uc010yjn.2_Missense_Mutation_p.P617S|LPIN1_uc002rbt.3_Missense_Mutation_p.P617S|LPIN1_uc010yjo.2_Missense_Mutation_p.P118S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	617	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CAGGCCACCTCCCTCTTCTGCC	0.540000														163			33		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151094937	151094937	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:151094937G>A	uc003eyp.3	+	27	4311	c.4182G>A	c.(4180-4182)acG>acA	p.T1394T	MED12L_uc011bnz.2_Silent_p.T1254T|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.T557T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1394					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGTAGCACGAGACAGAATG	0.368000														7			16		0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128877993	128877993	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:128877993G>A	uc004eut.1	+	2	424	c.180G>A	c.(178-180)caG>caA	p.Q60Q	XPNPEP2_uc011mum.2_Silent_p.Q60Q	NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	60					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCCGCCAGCAGATGCAGACCC	0.507000														15			69		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115987843	115987843	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:115987843C>T	uc001lbg.1	+	24	3650	c.3497C>T	c.(3496-3498)aCc>aTc	p.T1166I	TDRD1_uc001lbf.3_Missense_Mutation_p.T1043I|TDRD1_uc001lbh.1_Missense_Mutation_p.T1153I|TDRD1_uc001lbi.1_Missense_Mutation_p.T1157I|TDRD1_uc010qsc.2_Missense_Mutation_p.T694I|TDRD1_uc001lbj.3_Missense_Mutation_p.T875I	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1166					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AACAATTCAACCAATCAAAAT	0.289000														2			7		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	75005965	75005965	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:75005965G>A	uc001dge.2	+	25	2769	c.2702G>A	c.(2701-2703)aGa>aAa	p.R901K	FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.R800K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	800						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GAGATGAAAAGAAGTCTTCAA	0.358000														13			38		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066268	73066268	+	RNA	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:73066268G>A	uc004ebm.1	-	0		c.6321C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TAGTGCATAGGATCCCAGACG	0.488000														4			23		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473577	19473577	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:19473577C>A	uc003jgd.3	-	12	2665	c.2131G>T	c.(2131-2133)Gat>Tat	p.D711Y	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.D711Y|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	711					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCTGAACATCTATGCTTTCC	0.493000														55			14		4.3838e-07	4.41447e-07	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101765855	101765855	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:101765855G>A	uc004azb.1	+	7	1392	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	396	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAACCCAGAGGAAGGGGTCAC	0.617000														32			13		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89421765	89421765	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:89421765G>T	uc001pda.3	+	9	1148	c.622G>T	c.(622-624)Gga>Tga	p.G208*		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	208					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGCAAATTGGGATCTGGAAA	0.333000														31			33		4.0492e-12	4.09664e-12	1	1	0
LIPF	8513	broad.mit.edu	37	10	90427098	90427098	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:90427098G>A	uc001kfg.2	+	1	158	c.44G>A	c.(43-45)gGg>gAg	p.G15E	LIPF_uc009xtk.3_Missense_Mutation_p.G15E|LIPF_uc001kfh.2_Missense_Mutation_p.G25E|LIPF_uc010qmt.2_Missense_Mutation_p.G25E|LIPF_uc010qmu.2_Missense_Mutation_p.G15E	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	15					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TCTGTACTGGGGACTACACAT	0.378000														7			34		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66620223	66620223	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:66620223G>A	uc001ojn.1	-	11	1647	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	PC_uc001ojo.1_Missense_Mutation_p.P533L|PC_uc001ojp.1_Missense_Mutation_p.P533L	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	533					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCTACCTATGGGCACTGCAGG	0.632000														22			24		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276059	152276059	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:152276059C>T	uc001ezu.1	-	2	11339	c.11303G>A	c.(11302-11304)gGa>gAa	p.G3768E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3768	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTGTCTTCCTCCTCTCCT	0.602000									Ichthyosis					596			109		0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65557595	65557595	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:65557595G>A	uc003tup.3	+	14	1430	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	ASL_uc003tuo.3_Missense_Mutation_p.E399K|ASL_uc003tur.3_Missense_Mutation_p.E373K|ASL_uc003tuq.3_Missense_Mutation_p.E379K	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	399					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTTCATGGCCGAGACCAAGGG	0.637000														47			56		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562596	136562597	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:136562596_136562597CC>TT	uc002tuu.1	-	9	4215_4216	c.4204_4205GG>AA	c.(4204-4206)gga>AAa	p.G1402K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1402	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AATGCTGAGTCCTTTGCCATCT	0.475000														24			36		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99139478	99139478	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:99139478G>T	uc001knf.3	-	13	1722	c.1583C>A	c.(1582-1584)aCg>aAg	p.T528K	RRP12_uc009xvm.3_Missense_Mutation_p.T246K|RRP12_uc010qou.2_Missense_Mutation_p.T467K|RRP12_uc009xvn.3_Missense_Mutation_p.T428K	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	528						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AAGAGCCGCCGTGTGGGGGAA	0.592000														9			40		8.16277e-20	8.29242e-20	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60885242	60885242	+	Missense_Mutation	SNP	C	T	T	rs139502000	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:60885242C>T	uc002ycq.3	-	76	10793	c.10726G>A	c.(10726-10728)Gag>Aag	p.E3576K	LAMA5_uc021wfw.1_Intron	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3576	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTTGCTTCTCGGTCACCTGC	0.657000														37			46		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540310	55540310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:55540310C>T	uc003xsd.1	+	3	4016	c.3868C>T	c.(3868-3870)Cag>Tag	p.Q1290*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1290					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGTGTGGATCAGACTTCTAT	0.408000														111			58		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100999493	100999493	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:100999493G>A	uc001pgh.2	-	0	1052	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PGR_uc001pgi.2_Silent_p.P103P|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	103	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCTTTTCTGGGGGACTAGAAC	0.627000														25			7		0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110842044	110842044	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:110842044C>T	uc003kph.1	-	2	223	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_Non-coding_Transcript|STARD4_uc003kpj.2_Missense_Mutation_p.E47K	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	47	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CCATTAAATTCTTCTGAGGGT	0.299000														4			11		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165218847	165218847	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:165218847G>A	uc001gcz.2	-	3	488	c.294C>T	c.(292-294)ttC>ttT	p.F98F	LMX1A_uc021pdz.1_Silent_p.F98F	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	98	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGATGGCCTCGAAGCAGCCCC	0.542000														21			14		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158275099	158275099	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:158275099T>A	uc002tzj.1	-	6	621	c.549A>T	c.(547-549)caA>caT	p.Q183H	CYTIP_uc010zcl.1_Missense_Mutation_p.Q77H	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	183	Interaction with CYTH1.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GTTTCAAAGTTTGCTGTGAGa	0.328000														63			19		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13074168	13074168	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:13074168C>T	uc002wod.1	+	5	1059	c.770C>T	c.(769-771)tCg>tTg	p.S257L		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	257					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AACCACACATCGCTTGTGCTT	0.408000														74			18		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20257933	20257933	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:20257933G>C	uc002wru.3	+	21	2741	c.2627G>C	c.(2626-2628)tGc>tCc	p.C876S	C20orf26_uc010zse.2_Missense_Mutation_p.C856S|C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	876										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACCATCACCTGCATCAACAAC	0.627000														38			54		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171249965	171249965	+	Missense_Mutation	SNP	G	A	A	rs16864310		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:171249965G>A	uc009wvz.3	+	5	804	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	FMO1_uc010pme.2_Missense_Mutation_p.R160Q|FMO1_uc001ghl.3_Missense_Mutation_p.R223Q|FMO1_uc001ghm.3_Missense_Mutation_p.R223Q	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	223			R -> Q (in dbSNP:rs16864310).		NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGATCAGCCGAATCTTTGAC	0.517000														65			7		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028572	38028572	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:38028572C>T	uc010efm.3	+	7	1454	c.1012C>T	c.(1012-1014)Ccg>Tcg	p.P338S	ZNF793_uc010xts.2_Missense_Mutation_p.P338S	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGAGAAAGACCGTATCGTTG	0.458000														18			17		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166210771	166210771	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:166210771G>A	uc002udc.3	+	16	3279	c.2989G>A	c.(2989-2991)Gat>Aat	p.D997N	SCN2A_uc002udd.3_Missense_Mutation_p.D997N|SCN2A_uc002ude.3_Missense_Mutation_p.D997N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	997					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CACTGATGATGATAACGAAAT	0.388000														157			34		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155790414	155790414	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:155790414C>T	uc001flz.2	-	5	1094	c.997G>A	c.(997-999)Gta>Ata	p.V333I	GON4L_uc001fly.1_Missense_Mutation_p.V333I|GON4L_uc009wrh.1_Missense_Mutation_p.V333I|GON4L_uc001fma.1_Missense_Mutation_p.V333I|GON4L_uc001fmc.3_Missense_Mutation_p.V333I|GON4L_uc001fmd.4_Missense_Mutation_p.V333I|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.V161I|GON4L_uc001fmf.3_Missense_Mutation_p.V27I	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	333					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTTCCACTACTTCCTTCAGT	0.368000														54			16		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450225	158450225	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:158450225C>T	uc010pik.2	+	0	558	c.558C>T	c.(556-558)ctC>ctT	p.L186L	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S185I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTTTCAGCCTCCCTTTTTGTA	0.438000														135			51		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659141	179659141	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:179659141T>C	uc021vsy.1	-	7	1608	c.1383A>G	c.(1381-1383)caA>caG	p.Q461Q	TTN_uc021vsz.1_Silent_p.Q461Q|TTN_uc021vta.1_Silent_p.Q461Q|TTN_uc021vtb.1_Silent_p.Q461Q|TTN_uc002unb.2_Silent_p.Q461Q|TTN_uc010frg.1_Silent_p.Q135Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	461							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAGCAGGTTGGATGTGCA	0.557000														64			140		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54803033	54803033	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:54803033T>C	uc001sga.3	-	3	634	c.566A>G	c.(565-567)tAt>tGt	p.Y189C	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	189					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GCAGGGTGCATACTCCAGAAT	0.577000														33			11		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337212	102337212	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:102337212C>T	uc004eju.3	-	8	932	c.861G>A	c.(859-861)acG>acA	p.T287T	NXF3_uc010noi.1_Silent_p.T137T|NXF3_uc011mrw.1_Silent_p.T287T|NXF3_uc011mrx.1_Silent_p.T198T	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	287						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCGAGAAGGTCGTGCACACTG	0.542000														13			56		0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32630983	32630983	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:32630983A>G	uc003ami.3	-	7	764	c.762T>C	c.(760-762)agT>agC	p.S254S		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	254					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTGTGTAGCAACTGGCACTGA	0.498000														106			60		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146488	70146488	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:70146488C>T	uc003hej.3	+	0	272	c.270C>T	c.(268-270)atC>atT	p.I90I	UGT2B28_uc010ihr.3_Silent_p.I90I	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	90					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AGAATATCATCATGCAACAGG	0.328000														19			26		0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219447751	219447751	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:219447751A>T	uc010zkh.2	+	2	262	c.262A>T	c.(262-264)Aac>Tac	p.N88Y	RQCD1_uc002vih.1_Missense_Mutation_p.N88Y|RQCD1_uc010zki.2_Missense_Mutation_p.N88Y	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	88					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.N88K(1)|p.S87C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACCAGTCTAACAGAGTTTG	0.393000														30			60		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39308180	39308180	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:39308180G>A	uc002oji.3	-	3	470	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	HNRNPL_uc010xuk.1_Nonsense_Mutation_p.Q129*|HNRNPL_uc002ojj.1_Nonsense_Mutation_p.Q338*|HNRNPL_uc010ege.1_Nonsense_Mutation_p.Q131*	NM_001398	NP_001389	P14866	HNRPL_HUMAN	Homo sapiens enoyl CoA hydratase 1, peroxisomal (ECH1), mRNA.	0	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCTTTGGGCTGCAGGATGTCC	0.562000														8			13		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6897288	6897288	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:6897288G>A	uc002mfw.3	+	3	405	c.367G>A	c.(367-369)Gga>Aga	p.G123R	EMR1_uc010dvc.3_Missense_Mutation_p.G123R|EMR1_uc010dvb.3_Intron|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Missense_Mutation_p.G123R	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	123	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.G123V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGGGTCCCAGGAAAGCCGGG	0.502000														17			11		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335110	7335110	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:7335110C>T	uc001mfe.3	+	2	1219	c.982C>T	c.(982-984)Cta>Tta	p.L328L	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	328						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGATCACTTCCTAGACTTGGC	0.478000														55			61		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860305	16860305	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:16860305G>A	uc002neu.4	+	5	1274	c.852G>A	c.(850-852)ctG>ctA	p.L284L	NWD1_uc002net.4_Silent_p.L149L|NWD1_uc002nev.4_Silent_p.L78L|NWD1_uc021uqg.1_Silent_p.L149L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	284							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCGTGAGCTGGATACGGCCG	0.597000														32			13		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265785	10265785	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:10265785C>T	uc002gmk.1	-	3	330	c.240G>A	c.(238-240)atG>atA	p.M80I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	80	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGAGGGTTCATGGGGAAGA	0.483000														14			67		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703324	55703324	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:55703324G>A	uc010ris.2	-	0	553	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P185A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTAAGCAGGGGAGGGAGGTCA	0.403000														9			15		0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793789	4793789	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:4793789C>T	uc002mbf.3	+	0	2062	c.1923C>T	c.(1921-1923)tgC>tgT	p.C641C	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	641					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCTGCAGTGCCTTGCGGCCC	0.592000														10			10		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72050821	72050821	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:72050821G>A	uc001swo.2	-	1	1218	c.859C>T	c.(859-861)Cct>Tct	p.P287S	ZFC3H1_uc010sts.2_Missense_Mutation_p.P287S|ZFC3H1_uc001swp.3_Missense_Mutation_p.P287S	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	287					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCTCCTCAGGAGCTACTTCT	0.363000														41			23		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907898	3907898	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:3907898G>A	uc010xhz.2	+	5	1026	c.543G>A	c.(541-543)atG>atA	p.M181I	ATCAY_uc002lyy.4_Missense_Mutation_p.M175I|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	175	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCTTACATGAAAGTGGTCA	0.677000														15			11		0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33137834	33137834	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:33137834G>A	uc002xap.1	+	2	154	c.52_splice	c.e2+1	p.A18_splice		NM_181509	NP_852610	Q9H492	MLP3A_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 alpha (MAP1LC3A), transcript variant 2, mRNA.	14					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						GTGGACCCAGGTCTGTCTGGC	0.572000														41			12		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14537894	14537894	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr18:14537894C>T	uc010dln.3	-	2	1170	c.716G>A	c.(715-717)gGa>gAa	p.G239E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	239										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGTGGTATTTCCATACTCATC	0.383000														47			14		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011626	32011626	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:32011626C>T	uc003nzl.2	-	34	11626	c.11424G>A	c.(11422-11424)caG>caA	p.Q3808Q	TNXB_uc003nzg.1_Silent_p.Q239Q|TNXB_uc003nzh.1_Silent_p.Q277Q	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3855	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGAGTTTCTGGGTCCGGG	0.637000														50			115		0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840463	153840463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:153840463C>T	uc021xgc.1	+	1	966	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	ARHGEF26-AS1_uc003ezu.1_5'Flank|ARHGEF26_uc011bog.1_Missense_Mutation_p.L228F|ARHGEF26_uc011boh.1_Missense_Mutation_p.L228F	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	228					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GAACGAGCTCCTCGAGAATCC	0.557000														13			11		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990693	63990693	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:63990693C>T	uc003peh.3	-	3	797	c.763G>A	c.(763-765)Gag>Aag	p.E255K	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	255					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GAAAAACTCTCGACATTGGCT	0.418000														17			9		0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42998027	42998027	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:42998027G>A	uc011apq.2	-	2	636	c.537C>T	c.(535-537)ccC>ccT	p.P179P	POLDIP3_uc011app.2_Silent_p.P83P|POLDIP3_uc011apr.2_Intron|POLDIP3_uc003bcu.3_Silent_p.P162P|POLDIP3_uc003bcv.3_Intron|POLDIP3_uc010gza.3_Non-coding_Transcript	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	162					positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CGGCAGGATGGGGATGAAGTG	0.507000														65			35		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759178	6759178	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:6759178C>T	uc002wmu.1	+	2	1418	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	211					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ATGTCACCCCCGCTGTGATGC	0.527000														16			33		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785414	60785414	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:60785414C>T	uc001nqq.3	+	10	1991	c.1766C>T	c.(1765-1767)tCt>tTt	p.S589F	CD6_uc001nqp.3_Missense_Mutation_p.S589F|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.S557F|CD6_uc001nqt.3_Missense_Mutation_p.S548F	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	589					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGGTGTTTTCTTCAGAGAGG	0.572000														54			26		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982509	75982509	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:75982509G>A	uc002baw.3	-	2	990	c.897C>T	c.(895-897)tcC>tcT	p.S299S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	299	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.I298T(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTGGTCCACGGAGATTTCCA	0.612000														3			22		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48925100	48925101	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:48925100_48925101CC>TT	uc002pjc.4	+	9	2238_2239	c.2150_2151CC>TT	c.(2149-2151)tcc>tTT	p.S717F	GRIN2D_uc010elx.3_5'UTR|Mir_324_uc021uwu.1_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	717						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCCAACGGCTCCACGGAGAAGA	0.619000														40			45		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451432	19451432	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:19451432C>T	uc002dgc.4	+	2	821	c.72C>T	c.(70-72)aaC>aaT	p.N24N	TMC5_uc010vaq.2_Silent_p.N24N|TMC5_uc002dgb.4_Silent_p.N24N|TMC5_uc010var.2_Silent_p.N24N	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	24						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGTCTCAGAACCGTACGCAGG	0.498000														38			25		0	0	1	0	0
RPL9	6133	broad.mit.edu	37	4	39458102	39458102	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:39458102G>A	uc003gub.3	-	3	463	c.315C>T	c.(313-315)atC>atT	p.I105I	RPL9_uc003guc.3_Silent_p.I105I|RPL9_uc011byk.2_Non-coding_Transcript|RPL9_uc011byl.1_Silent_p.I105I|LIAS_uc003gue.4_5'Flank|LIAS_uc011bym.2_5'Flank|LIAS_uc003guf.3_5'Flank|LIAS_uc003gug.3_5'Flank	NM_001024921	NP_001020092	P32969	RL9_HUMAN	Homo sapiens ribosomal protein L9 (RPL9), transcript variant 2, mRNA.	105					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CATTCTCCTGGATAACAACGT	0.423000														11			17		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101609037	101609037	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:101609037C>T	uc003yjr.3	-	9	959	c.808G>A	c.(808-810)Gga>Aga	p.G270R	SNX31_uc011lha.2_Missense_Mutation_p.G65R|SNX31_uc011lhb.2_Missense_Mutation_p.G171R	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	270					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGCAGGTATCCATAGTGCCGT	0.527000														95			37		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1444001	1444001	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:1444001G>A	uc003boz.3	+	22	3085	c.2818_splice	c.e22-1	p.I940_splice	CNTN6_uc011asj.2_Splice_Site_p.I868_splice|CNTN6_uc003bpa.3_Splice_Site_p.I940_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	940	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTTTATTCAGATTCTGTACC	0.348000														23			8		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:147380211C>T	uc021ovm.1	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_uc001epu.2_Silent_p.F43F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	43					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592000														107			18		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6558609	6558609	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:6558609C>A	uc003zkc.3	-	16	2195	c.2002G>T	c.(2002-2004)Gtg>Ttg	p.V668L		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	668					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCCACCTCCACAGGCTGAATC	0.507000														67			64		1.12612e-26	1.14805e-26	1	1	0
C1QA	712	broad.mit.edu	37	1	22965503	22965503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:22965503G>A	uc001bfy.3	+	2	426	c.341G>A	c.(340-342)aGg>aAg	p.R114K		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	114	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACCAGCCGAGGCCAGCCTTC	0.637000														31			3		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100607746	100607746	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:100607746G>A	uc003uxl.1	+	5	2393	c.1593_splice	c.e5-1	p.R531_splice	MUC3A_uc003uxk.1_Splice_Site|AK096803_uc003uxm.1_Intron|AK096803_uc003uxn.1_Intron|MUC3A_uc010lhn.1_5'Flank					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GACCCCTCAGGAATGGCAGCA	0.597000														74			8		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177180	7177180	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:7177180C>T	uc001qsj.3	+	14	2011	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	C1S_uc001qsk.3_Missense_Mutation_p.P431L|C1S_uc001qsl.3_Missense_Mutation_p.P431L|C1S_uc009zfr.3_Missense_Mutation_p.P264L|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	431					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.E430*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CCCAGAGAACCCTTTGAAGAA	0.468000														66			23		0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12680050	12680050	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:12680050G>A	uc003ssn.4	+	10	1699	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.G250R	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	497	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTACAAGAATGGAACATCAAA	0.488000														16			4		0	0	1	0	0
CALML6	163688	broad.mit.edu	37	1	1848607	1848607	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:1848607G>A	uc001aih.1	+	5	975	c.521G>A	c.(520-522)gGg>gAg	p.G174E		NM_138705	NP_619650	Q8TD86	CALL6_HUMAN	Homo sapiens calmodulin-like 6 (CALML6), mRNA.	174	EF-hand 4.					cytoplasm|nucleus	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ATGATGACGGGGGAGTCCTTC	0.697000														6			11		0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21956044	21956044	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:21956044C>T	uc011kyx.2	+	6	930	c.879C>T	c.(877-879)atC>atT	p.I293I	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	293										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GCCCTGCGATCGTCCGGCACC	0.642000														17			11		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276760	75276760	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:75276760T>C	uc002fdv.3	-	1	387	c.241A>G	c.(241-243)Acc>Gcc	p.T81A	BCAR1_uc010vna.2_Missense_Mutation_p.T79A|BCAR1_uc010cgu.3_Missense_Mutation_p.T81A|BCAR1_uc010vnb.2_Missense_Mutation_p.T127A|BCAR1_uc002fdw.3_Missense_Mutation_p.T81A|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Missense_Mutation_p.T99A|BCAR1_uc002fdx.3_Missense_Mutation_p.T99A	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	81	Pro-rich.				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGGCCGGGGTGGCGGGAGGG	0.692000														44			4		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84537324	84537324	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:84537324C>T	uc004eer.2	-	16	1796	c.1650_splice	c.e16-1	p.K550_splice	POF1B_uc004ees.3_Intron	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	550							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGTCCTGTACCTGTTGGCAAG	0.383000														2			21		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805363	146805363	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:146805363C>T	uc003weu.2	+	4	1191	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	225	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGGAGTAATCCTGCACGGAG	0.403000										HNSCC(39;0.1)				12			18		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2539344	2539344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:2539344G>A	uc002wgf.1	+	2	340	c.325G>A	c.(325-327)Gag>Aag	p.E109K	TMC2_uc002wgg.1_Missense_Mutation_p.E93K|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	109	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCCTTCCAGGAGCGGACAGC	0.632000														14			6		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058866	152058866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:152058866C>T	uc001ezo.1	-	2	1357	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	431							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTTGATAATCCTTGGAGTTC	0.463000														160			25		0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92712635	92712635	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:92712635G>A	uc001dor.3	-	17	1767	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Missense_Mutation_p.P537L	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	551					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CTGCATTTCAGGAGGCATATT	0.393000									Multiple Glomus Tumors (of the Skin), Familial					39			112		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158222	139158222	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:139158222G>A	uc003yuy.3	-	14	3691	c.3520C>T	c.(3520-3522)Cta>Tta	p.L1174L	FAM135B_uc003yux.3_Silent_p.L1075L|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.L736L|FAM135B_uc003yvb.3_Missense_Mutation_p.P701L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1174										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCAGACATTAGGAAGTCCAGT	0.438000										HNSCC(54;0.14)				52			25		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	4494906	4494906	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:4494906G>A	uc022aqr.1	-	1	650	c.260C>T	c.(259-261)tCa>tTa	p.S87L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	87	CUB 1.					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)		ATCGTAAACTGATAAAATATC	0.378000														45			41		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27462705	27462705	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:27462705C>T	uc003xfy.2	-	4	745	c.598G>A	c.(598-600)Gag>Aag	p.E200K	CLU_uc003xfw.2_Missense_Mutation_p.E189K|CLU_uc003xfx.2_Missense_Mutation_p.E189K|CLU_uc003xfz.2_Missense_Mutation_p.E189K	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	189					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGGAAGAGCTCGTCTATGATG	0.607000														25			23		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206937	58206937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:58206937C>T	uc010rkh.2	-	0	710	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGGCGTCCTTCAGGTGAGCGC	0.403000														28			10		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283158	63283158	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:63283158C>T	uc001nxc.2	+	7	1181	c.840C>T	c.(838-840)ttC>ttT	p.F280F	LGALS12_uc001nxa.2_Silent_p.F279F|LGALS12_uc001nxb.2_Silent_p.F270F|LGALS12_uc001nxd.2_Silent_p.F218F|LGALS12_uc001nxe.2_Silent_p.F209F|LGALS12_uc009yot.2_Silent_p.F239F	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	279	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CAGCCCCCTTCCTCTTTTACC	0.552000														20			4		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466470	74466470	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:74466470G>A	uc002sko.1	-	15	2313	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.P771S|SLC4A5_uc010ffc.1_Missense_Mutation_p.P771S|SLC4A5_uc002skp.1_Missense_Mutation_p.P707S|SLC4A5_uc002sks.1_Missense_Mutation_p.P771S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	771						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						ACCTTGGTAGGAAAATAGCGG	0.532000														30			4		0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234238222	234238222	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:234238222C>T	uc002vuh.2	+	9	1121	c.733_splice	c.e9+1	p.V245_splice	SAG_uc010zmq.1_Splice_Site_p.V111_splice	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	245					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TTAAAGCATTCGGTAGGACCT	0.468000														8			17		0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164050305	164050305	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:164050305G>T	uc003iqj.3	-	7	1423	c.1229C>A	c.(1228-1230)cCt>cAt	p.P410H	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	410					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCTCTGAGAAGGAAATCCTGA	0.483000														17			18		2.94398e-08	2.97151e-08	1	1	0
RGS1	5996	broad.mit.edu	37	1	192548321	192548321	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:192548321A>G	uc001gsi.1	+	4	565	c.499A>G	c.(499-501)Acc>Gcc	p.T167A		NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	167	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAAAGCACCAACCCCCACGTG	0.348000														101			15		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196834804	196834804	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:196834804C>T	uc002utj.4	-	16	2174	c.2073G>A	c.(2071-2073)cgG>cgA	p.R691R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	691	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCCACAAACCGTTCACACC	0.328000														21			34		0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48955569	48955570	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:48955569_48955570CA>AG	uc001vcb.3	+	16	1851_1852	c.1685_1686CA>AG	c.(1684-1686)gca>gAG	p.A562E		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	562	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAATCCCTTGCATGGCTCTCAG	0.342000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				9			6		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392220	1392220	+	Missense_Mutation	SNP	G	A	A	rs151024049	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:1392220G>A	uc002clk.2	+	10	1156	c.998G>A	c.(997-999)gGg>gAg	p.G333E	BAIAP3_uc010uuz.2_Missense_Mutation_p.G298E|BAIAP3_uc010uva.2_Missense_Mutation_p.G270E|BAIAP3_uc021tag.1_Missense_Mutation_p.G275E|BAIAP3_uc002clj.3_Missense_Mutation_p.G315E|BAIAP3_uc010uvb.2_Missense_Mutation_p.G350E|BAIAP3_uc010uvc.1_Missense_Mutation_p.G298E	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	333					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CGCGCAAACGGGACAGCAGGA	0.632000														41			21		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028341	38028341	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:38028341G>A	uc010efm.3	+	7	1223	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	ZNF793_uc010xts.2_Missense_Mutation_p.G261R	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTGACTGTGGGAAAGCCTT	0.458000														15			5		0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134021527	134021527	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:134021527G>A	uc010quu.1	-	11	1603	c.1487C>T	c.(1486-1488)gCc>gTc	p.A496V	STK32C_uc001lld.1_Missense_Mutation_p.A366V|STK32C_uc001lle.1_Missense_Mutation_p.A483V|STK32C_uc001llb.2_Missense_Mutation_p.A254V|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	Homo sapiens serine/threonine kinase 32C (STK32C), mRNA.	483							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCCGCTCCCGGCCGAGGGGCA	0.711000														4			12		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42545975	42545975	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:42545975G>A	uc003gwr.2	-	19	1913	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	ATP8A1_uc003gws.2_Missense_Mutation_p.R546C|ATP8A1_uc011byz.1_Missense_Mutation_p.R546C	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	561					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.R561H(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GATGGAGTGCGAACAATCACT	0.338000														11			17		0	0	1	0	0
MRPL54	116541	broad.mit.edu	37	19	3762665	3762665	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:3762665G>A	uc002lyq.4	+	1	1	c.-33_splice	c.e1-1		APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTTCCGGAAACGTGCAC	0.622000														54			59		0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062288	76062288	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:76062288C>T	uc003ufd.4	+	2	486	c.476C>T	c.(475-477)cCc>cTc	p.P159L	ZP3_uc003ufc.4_Missense_Mutation_p.P108L|ZP3_uc003ufe.3_Missense_Mutation_p.P67L	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	159	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ACCTGGTTGCCCTTCAGGACC	0.587000														13			13		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114040	117114040	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:117114040C>T	uc003pxj.1	-	5	2068	c.2046G>A	c.(2044-2046)ctG>ctA	p.L682L	GPRC6A_uc003pxk.1_Silent_p.L507L|GPRC6A_uc003pxl.1_Silent_p.L611L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	682					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCAAAATTTTCAGAGACTTCG	0.413000														16			23		0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69194308	69194308	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:69194308G>A	uc002ews.4	+	12	1590	c.1494G>A	c.(1492-1494)tgG>tgA	p.W498*	CIRH1A_uc002ewr.2_Nonsense_Mutation_p.W498*|CIRH1A_uc002ewt.4_Nonsense_Mutation_p.W415*|CIRH1A_uc010cfi.3_Nonsense_Mutation_p.W300*	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	498						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATGGGAATTGGCTAGCTGCAT	0.473000														151			4		0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112461939	112461939	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:112461939G>A	uc011kms.1	-	5	1283	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	C7orf60_uc003vgo.1_Nonsense_Mutation_p.R360*	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	360										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						atatctGATCGAACATAGCAG	0.398000														16			15		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686321	181686321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:181686321C>T	uc009wxt.3	+	10	1603	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	CACNA1E_uc001gow.3_Missense_Mutation_p.R470C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R470C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	470					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATCTCCATTCGCCACATGGT	0.532000														30			84		0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600297	54600297	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:54600297G>A	uc002qdd.3	-	3	417	c.300C>T	c.(298-300)ttC>ttT	p.F100F	OSCAR_uc002qcy.3_Silent_p.F79F|OSCAR_uc002qcz.3_Silent_p.F75F|OSCAR_uc002qda.3_Silent_p.F79F|OSCAR_uc002qdb.3_Silent_p.F64F|OSCAR_uc010erc.3_Missense_Mutation_p.P43S|OSCAR_uc002qdc.3_Silent_p.F89F|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	75	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					ACACATCCCGGAAGAGAAGGG	0.592000														45			20		0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008503	65008503	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:65008503C>T	uc001xhj.3	+	1	1012	c.936C>T	c.(934-936)ctC>ctT	p.L312L	HSPA2_uc001xhk.4_Silent_p.L312L	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	312					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ATGCCGACCTCTTTCGCGGGA	0.652000														46			13		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44148390	44148390	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:44148390C>T	uc001mya.3	+	5	1119	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	EXT2_uc010rfo.2_Missense_Mutation_p.R350C|EXT2_uc009ykt.3_Missense_Mutation_p.R322C|EXT2_uc001mxz.3_Missense_Mutation_p.R322C	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	322					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGTGGTTCTTCGTGGAGCTCG	0.478000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					94			32		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300258	88300258	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:88300258G>A	uc001pcq.3	-	6	2793	c.2593C>T	c.(2593-2595)Ctg>Ttg	p.L865L	GRM5_uc009yvm.3_Silent_p.L865L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	865					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCTTCCACAGGTTGACTAGG	0.562000														26			23		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35280490	35280490	+	Splice_Site	SNP	C	T	T	rs3999940		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:35280490C>T	uc011kas.2	-	5	1293	c.813_splice	c.e5+1	p.L271_splice		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	271						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGTACACTCACCAGTTGATTC	0.398000														30			8		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584504	30584504	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:30584504T>C	uc002wxe.3	+	2	1158	c.984T>C	c.(982-984)ttT>ttC	p.F328F		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	328						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCTCTATTTTGGCATCTTCA	0.592000														56			23		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98865055	98865055	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:98865055G>A	uc003htt.2	-	7	1127	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	346										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TACCATATCTGGTACTTTCAT	0.353000														28			22		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263126	51263126	+	Silent	SNP	C	T	T	rs139890793	by1000genomes	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:51263126C>T	uc011bds.2	+	14	1322	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	433	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGGGGATTTCGAGAGAGGAG	0.463000														47			17		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824785	74824785	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:74824785G>A	uc021rwl.1	+	0	1299	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	VRTN_uc001xpw.4_Silent_p.R433R	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	433					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCATCTCACGGTCCACTTATT	0.572000														34			45		0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332413	123332413	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:123332413G>A	uc003vkz.3	-	8	1663	c.1335C>T	c.(1333-1335)atC>atT	p.I445I		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	445	WH2 2.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATTTTAGTTGGATACCCTGTC	0.348000														34			14		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96536846	96536846	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:96536846G>A	uc001vmt.3	-	26	3297	c.3127C>T	c.(3127-3129)Cct>Tct	p.P1043S	UGGT2_uc001vmu.1_Missense_Mutation_p.P130S	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1043					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GGTGATTCAGGAATATCCAAA	0.408000														28			28		0	0	1	0	0
H1FX	8971	broad.mit.edu	37	3	129034463	129034464	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:129034463_129034464CC>TT	uc003elx.3	-	0	657_658	c.282_283GG>AA	c.(280-285)aaggcg>aaAAcg	p.A95T	H1FX-AS1_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	Homo sapiens H1 histone family, member X (H1FX), mRNA.	95	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						TGCACCAGCGCCTTGATCGAGT	0.629000														1			3		0	0	1	0	0
SNX30	401548	broad.mit.edu	37	9	115626678	115626678	+	Splice_Site	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:115626678A>C	uc004bgj.4	+	8	1402	c.1254_splice	c.e8+1	p.K418_splice	SNX30_uc004bgi.4_Splice_Site_p.K100_splice	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	418					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATTATGAGAAGGTAATGAGT	0.502000														28			5		0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19811727	19811727	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:19811727C>T	uc003wzk.4	+	4	1008	c.638C>T	c.(637-639)aCc>aTc	p.T213I		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	213					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CACACATTCACCAGAGGGTCC	0.483000														50			38		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96315573	96315573	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:96315573C>T	uc003kmv.1	+	1	1265	c.751C>T	c.(751-753)Ctt>Ttt	p.L251F	LNPEP_uc003kmw.1_Missense_Mutation_p.L237F	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	251					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CCCCGAAGCCCTTCTAGCAGG	0.413000														3			18		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43911173	43911173	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:43911173G>A	uc010dap.3	+	11	1375	c.1110G>A	c.(1108-1110)cgG>cgA	p.R370R	CRHR1_uc010wjx.2_Silent_p.R166R|CRHR1_uc002ijp.3_Intron|CRHR1_uc002ijm.3_Silent_p.R341R|CRHR1_uc002ijn.3_Silent_p.R301R|CRHR1_uc010dar.3_Silent_p.R341R|CRHR1_uc010dao.3_Silent_p.R240R|CRHR1_uc010daq.3_Silent_p.R166R|CRHR1_uc021tyu.1_Silent_p.R166R	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	370					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		AGGTCTCCCGGGTCGTCTTCA	0.582000														16			89		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121736128	121736128	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:121736128G>A	uc010flp.3	+	8	1517	c.1487G>A	c.(1486-1488)cGa>cAa	p.R496Q	GLI2_uc002tmq.1_Missense_Mutation_p.R168Q|GLI2_uc002tmr.1_Missense_Mutation_p.R151Q|GLI2_uc002tmt.4_Missense_Mutation_p.R168Q|GLI2_uc002tmu.4_Missense_Mutation_p.R151Q|GLI2_uc002tmw.1_Missense_Mutation_p.R479Q	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	496					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CACATGCGGCGACACACGGGC	0.652000														65			22		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37118320	37118320	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:37118320C>T	uc002oek.3	+	4	1634	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	ZNF382_uc010efa.3_Silent_p.L458L|ZNF382_uc010efb.3_Silent_p.L506L|ZNF382_uc002oel.3_Silent_p.L506L	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	507	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AATCAAACCTCATTCGCCATC	0.428000														33			8		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58141765	58141765	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:58141765C>T	uc003djj.2	+	40	7016	c.6851C>T	c.(6850-6852)tCc>tTc	p.S2284F	FLNB_uc010hne.2_Missense_Mutation_p.S2315F|FLNB_uc003djk.2_Missense_Mutation_p.S2273F|FLNB_uc010hnf.2_Missense_Mutation_p.S2260F|FLNB_uc003djl.2_Missense_Mutation_p.S2104F|FLNB_uc003djm.2_Missense_Mutation_p.S2091F	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2284	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATCGCACCCTCCGACGACGCC	0.582000														25			26		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151314	139151314	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:139151314C>T	uc003yuy.3	-	17	3987	c.3816G>A	c.(3814-3816)aaG>aaA	p.K1272K	FAM135B_uc003yux.3_Silent_p.K1173K|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1272										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCCGGATTTCTTCAGTTTCT	0.398000										HNSCC(54;0.14)				54			15		0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10192463	10192463	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:10192463C>T	uc002raf.1	+	3	1530	c.1368C>T	c.(1366-1368)tgC>tgT	p.C456C	KLF11_uc021vdq.1_Silent_p.C439C|KLF11_uc010yjc.2_Silent_p.C439C	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	456					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AGTTTGTGTGCCCGGTGTGTG	0.567000														65			24		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7548808	7548808	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:7548808T>A	uc010sge.2	-	7	1989	c.1963A>T	c.(1963-1965)Att>Ttt	p.I655F	CD163L1_uc001qsy.3_Missense_Mutation_p.I645F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	645	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCGAGCCAAATTTTTCCATAT	0.483000														14			10		0	0	1	0	0
FAM35B2	439965	broad.mit.edu	37	10	47379803	47379803	+	RNA	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:47379803C>T	uc010qfz.2	+	0		c.84C>T								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		TCAGAAGACACAGCTTCTTTA	0.363000														5			12		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209309521	209309521	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:209309521C>T	uc010zjb.2	+	6	1081	c.795C>T	c.(793-795)atC>atT	p.I265I	PTH2R_uc002vdb.3_Silent_p.I254I	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	254						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATTATTGGATCCTGGTGGAAG	0.393000														50			96		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768477	148768477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:148768477G>A	uc003wfh.2	-	3	1524	c.1387C>T	c.(1387-1389)Cgt>Tgt	p.R463C	ZNF786_uc011kuk.1_Missense_Mutation_p.R426C|ZNF786_uc003wfi.2_Missense_Mutation_p.R377C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCCTCTGACGGAAGTTCCTG	0.612000														22			5		0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27181462	27181462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:27181462G>A	uc003syn.2	-	1	866	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	269					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						ACTCAGGGACGGAAGGCCCCT	0.468000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			33		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198725049	198725049	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:198725049C>T	uc001gur.1	+	32	3834	c.3654C>T	c.(3652-3654)ttC>ttT	p.F1218F	PTPRC_uc001gut.1_Silent_p.F1057F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1218	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	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						AATATCAATTCCTATATGACG	0.338000														14			62		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9346712	9346712	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:9346712G>A	uc001qvl.3	-	10	1244	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	PZP_uc009zgl.3_Silent_p.I274I	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGGTAGTATTGATTGAAAACT	0.393000														37			22		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969156	5969156	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:5969156G>A	uc010qzt.2	+	0	580	c.580G>A	c.(580-582)Gat>Aat	p.D194N		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCTCCTGCGATGATGTCAC	0.473000														31			32		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235774	3235774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:3235774G>A	uc004crg.4	-	5	6105	c.5948C>T	c.(5947-5949)tCc>tTc	p.S1983F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1983	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAAGATCCAGGAAATTTGGGG	0.592000														2			28		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553695	140553695	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:140553695G>A	uc003lit.3	+	0	1453	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	427	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGACTTGGGGACACCCAG	0.512000														22			38		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496411	110496411	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:110496411G>A	uc004epc.2	-	3	522	c.331C>T	c.(331-333)Cct>Tct	p.P111S	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	111	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTTTTTTGAGGGTCCCATTCC	0.393000														7			20		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252157	50252157	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:50252157G>A	uc003cyn.4	+	3	394	c.253G>A	c.(253-255)Gga>Aga	p.G85R	SLC38A3_uc011bdl.2_Nonsense_Mutation_p.W85*|SLC38A3_uc011bdm.2_Missense_Mutation_p.G17R	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	86					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CGGCATCCTGGGACTCGCCTA	0.542000														16			9		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115596840	115596840	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:115596840C>T	uc003vhj.2	-	3	528	c.275G>A	c.(274-276)gGa>gAa	p.G92E	TFEC_uc003vhm.2_Missense_Mutation_p.G25E|TFEC_uc003vhk.2_Missense_Mutation_p.G63E|TFEC_uc003vhl.4_Missense_Mutation_p.G63E|TFEC_uc011kmw.2_Missense_Mutation_p.G182E	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	92	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CAAAATACTTCCAGATAACTT	0.318000														20			7		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510724	56510724	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:56510724G>A	uc010rjo.2	-	0	564	c.564C>T	c.(562-564)atC>atT	p.I188I		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGTGGTCAATGATATTTTTAC	0.448000														25			6		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955513	18955513	+	Silent	SNP	G	A	A	rs137866403	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:18955513G>A	uc001mpg.3	-	0	1037	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	273					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F273S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCCCACGAAGAAGTAAATGA	0.502000														82			24		0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771753	99771753	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:99771753C>T	uc001dse.3	+	6	1637	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	LPPR4_uc010oue.2_Silent_p.D435D	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	493							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGAATGGAGACCACCATGGTC	0.552000														70			207		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553153	6553154	+	Missense_Mutation	DNP	TT	CA	CA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:6553153_6553154TT>CA	uc001iji.1	-	1	304_305	c.220_221AA>TG	c.(220-222)aac>TGc	p.N74C	PRKCQ_uc001ijj.2_Missense_Mutation_p.N41C|PRKCQ_uc009xim.2_Missense_Mutation_p.N41C|PRKCQ_uc009xin.2_Splice_Site_p.N5_splice|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	41	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.N41Y(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CATCTGCCCGTTCTCTAGGAAC	0.465000														7			37		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954523	70954523	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:70954523C>T	uc002ezr.3	-	45	7904	c.7753G>A	c.(7753-7755)Gag>Aag	p.E2585K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2586										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTGTCGCTCTCTAGGGCCTGC	0.577000														16			7		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35565179	35565179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:35565179G>A	uc011dte.1	-	5	714	c.511C>T	c.(511-513)Cac>Tac	p.H171Y	FKBP5_uc003okx.2_Missense_Mutation_p.H171Y|FKBP5_uc011dtf.1_5'UTR|FKBP5_uc003oky.2_Missense_Mutation_p.H171Y|FKBP5_uc003okz.2_Missense_Mutation_p.H171Y	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	171	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CCTTCCAGGTGGACTGAGGGC	0.488000														38			13		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150928991	150928991	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:150928991G>A	uc003lue.4	-	7	4667	c.4654C>T	c.(4654-4656)Cca>Tca	p.P1552S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1552	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.H1551R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCGGGGTGGGTGGAGGTTT	0.572000														3			12		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430970	149430970	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:149430970C>T	uc003wfz.3	+	17	3323	c.2924C>T	c.(2923-2925)cCt>cTt	p.P975L	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.P583L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	976	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCCTCTCCTCCTGCAGCC	0.687000														11			3		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103412838	103412838	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:103412838G>A	uc001ymi.1	-	27	3947	c.3715C>T	c.(3715-3717)Ctc>Ttc	p.L1239F	CDC42BPB_uc001ymj.1_Missense_Mutation_p.L341F	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1239					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCCTTGATGAGAGGCAGCGAG	0.562000														17			16		0	0	1	0	0
ELF5	2001	broad.mit.edu	37	11	34533109	34533109	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:34533109G>A	uc001mvo.1	-	0	238	c.8C>T	c.(7-9)tCt>tTt	p.S3F	ELF5_uc021qft.1_Missense_Mutation_p.S3F|ELF5_uc001mvp.2_Intron|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Intron	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	3					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GTGAGGCAGAGATGGCATGGA	0.532000														14			14		0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46763234	46763234	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:46763234C>T	uc001cpn.3	-	3	401	c.357_splice	c.e3+1	p.E119_splice	LRRC41_uc010omb.2_Splice_Site_p.E119_splice|LRRC41_uc001cpo.1_Splice_Site_p.E119_splice	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	119										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCTTAACTTACTTCCAAACTG	0.468000														65			14		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875554	247875554	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:247875554G>A	uc001idj.1	-	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(2)|p.S167S(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGGGGCCACAGAAGGACAGGC	0.597000														36			105		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2514159	2514159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:2514159C>T	uc002cqh.3	+	8	1115	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	C16orf59_uc002cqg.2_Nonsense_Mutation_p.Q195*|C16orf59_uc002cqi.3_Nonsense_Mutation_p.Q195*|C16orf59_uc010uwb.2_Silent_p.P156P	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	362										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTCCAGCACCCAGGAGCTGCA	0.652000														16			16		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50758484	50758484	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:50758484G>A	uc021vhh.1	-	9	3149	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F	NRXN1_uc002rxb.4_Missense_Mutation_p.S415F|NRXN1_uc021vhg.1_Missense_Mutation_p.S783F|NRXN1_uc021vhi.1_Missense_Mutation_p.S779F|NRXN1_uc021vhj.1_Missense_Mutation_p.S739F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	743	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAACCGTAAGGAAACATCCTC	0.512000														5			15		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971513	79971513	+	Splice_Site	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:79971513G>T	uc010ysh.2	+	2	108	c.103_splice	c.e2-1	p.V35_splice	CTNNA2_uc010yse.2_Splice_Site_p.V35_splice|CTNNA2_uc010ysf.2_Splice_Site_p.V35_splice|CTNNA2_uc010ysg.2_Splice_Site_p.V35_splice	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	35					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TATATTTAAGGTGACTACACT	0.373000														19			25		2.79863e-10	2.82976e-10	1	1	0
POLE	5426	broad.mit.edu	37	12	133218812	133218812	+	Silent	SNP	G	A	A	rs114891564	byFrequency	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:133218812G>A	uc001uks.1	-	37	5168	c.5124C>T	c.(5122-5124)ttC>ttT	p.F1708F	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.F512F|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1708					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTTGGTCATCGAACTCCATGA	0.587000								DNA polymerases (catalytic subunits)						42			26		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72064648	72064648	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:72064648G>A	uc004ahh.2	-	9	2309	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	678	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGGAGGATGGATCCCCAGCC	0.483000														37			15		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75192297	75192297	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:75192297G>A	uc003uds.2	-	10	1007	c.962C>T	c.(961-963)cCc>cTc	p.P321L	HIP1_uc011kfz.2_Missense_Mutation_p.P321L	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	321					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.P321T(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTCGCTGTCGGGGGATGAGGC	0.572000			T	PDGFRB	CMML									31			7		0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1192649	1192649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:1192649G>A	uc001adp.3	-	3	403	c.214C>T	c.(214-216)Cct>Tct	p.P72S	UBE2J2_uc001adm.3_Missense_Mutation_p.P37S|UBE2J2_uc001ado.3_Missense_Mutation_p.P88S|UBE2J2_uc001adq.3_Missense_Mutation_p.P20S|UBE2J2_uc001adr.3_Missense_Mutation_p.P20S	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	72					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GGTTTGAAAGGAAATTCTCTG	0.507000														79			8		0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10403570	10403570	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:10403570C>T	uc003jet.1	+	14	1432	c.1249C>T	c.(1249-1251)Cca>Tca	p.P417S	MARCH6_uc011cmu.1_Missense_Mutation_p.P369S|MARCH6_uc003jeu.1_Missense_Mutation_p.P115S|MARCH6_uc011cmv.1_Missense_Mutation_p.P312S	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	417					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCAGTCGGCTCCAGGTACTAC	0.448000														13			50		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55028128	55028128	+	Silent	SNP	G	A	A	rs142247733		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:55028128G>A	uc002xxp.2	+	5	2121	c.1896G>A	c.(1894-1896)agG>agA	p.R632R	CASS4_uc002xxq.4_Silent_p.R632R|CASS4_uc010zze.1_Silent_p.R578R|CASS4_uc002xxr.2_Silent_p.R632R|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	632					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTAAGCAAAGGGAAGATGAAC	0.408000														25			26		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578867	141578867	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:141578867G>A	uc010ioj.3	-	11	2293	c.2021C>T	c.(2020-2022)tCc>tTc	p.S674F		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	674	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding	p.S674S(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCAAGACAGGGAGATGGTGGA	0.483000														40			50		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179593220	179593220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:179593220C>T	uc003fki.1	-	5	681	c.551G>A	c.(550-552)gGa>gAa	p.G184E	PEX5L_uc011bqd.1_Missense_Mutation_p.G141E|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.G76E|PEX5L_uc003fkj.1_Missense_Mutation_p.G149E|PEX5L_uc010hxd.1_Missense_Mutation_p.G182E|PEX5L_uc011bqg.1_Missense_Mutation_p.G160E|PEX5L_uc011bqh.1_Missense_Mutation_p.G125E	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	184					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTTCGATCTCCATGAAACTT	0.453000														16			39		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030284	95030284	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:95030284C>T	uc010avd.3	+	1	850	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SERPINA4_uc001ydk.3_Silent_p.F155F|SERPINA4_uc001ydl.3_Silent_p.F155F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	155					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTGCAAAATTCCTGAATGACA	0.537000														71			22		0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63833147	63833147	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:63833147C>T	uc010ypv.2	+	7	1095	c.918C>T	c.(916-918)ttC>ttT	p.F306F	MDH1_uc002scj.2_Silent_p.F288F|MDH1_uc010ypw.2_Silent_p.F199F	NM_001199111	NP_001186040	P40925	MDHC_HUMAN	Homo sapiens malate dehydrogenase 1, NAD (soluble) (MDH1), transcript variant 1, mRNA.	288					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	TCTACTCATTCCCTGTTGTAA	0.398000														44			76		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086255	55086255	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:55086255G>A	uc010ern.3	+	4	879	c.410G>A	c.(409-411)gGg>gAg	p.G137E	LILRA1_uc002qgg.4_Missense_Mutation_p.G137E|LILRA1_uc002qgf.3_Missense_Mutation_p.G137E|LILRA1_uc010yfe.1_Missense_Mutation_p.G137E|LILRA1_uc010yff.1_Missense_Mutation_p.G125E|LILRA1_uc010ero.3_Missense_Mutation_p.G125E|LILRA1_uc010yfg.1_Missense_Mutation_p.G137E			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	139	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCTTAGGAGGGAACGTGACC	0.557000														81			38		0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125894994	125894994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:125894994G>A	uc003ktx.3	-	10	1138	c.946C>T	c.(946-948)Cca>Tca	p.P316S	ALDH7A1_uc003ktv.3_5'UTR|ALDH7A1_uc011cxa.2_Missense_Mutation_p.P343S	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	316					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	AGAGCTGATGGAACAACTAAG	0.488000														4			15		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73493244	73493244	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:73493244C>T	uc010wsa.2	+	24	3594	c.3402C>T	c.(3400-3402)atC>atT	p.I1134I	KIAA0195_uc002jnz.4_Silent_p.I1124I|KIAA0195_uc010wsb.2_Silent_p.I764I|KIAA0195_uc002job.4_Silent_p.I132I	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1124					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACCGACATCCTGTGGCTGT	0.532000														66			18		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40439985	40439985	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:40439985G>A	uc003gvc.2	-	3	1636	c.926C>T	c.(925-927)tCg>tTg	p.S309L	RBM47_uc003gvd.2_Missense_Mutation_p.S309L|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.S271L|RBM47_uc003gvg.1_Missense_Mutation_p.S309L	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	309	RRM 3.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTCCAGGCACGAGCCCTCCAG	0.662000														39			16		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624923	123624923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:123624923G>A	uc010rzy.2	-	0	304	c.304C>T	c.(304-306)Cac>Tac	p.H102Y		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACGAAGAAGTGGAAGAAGGCC	0.517000														16			5		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199535	117199535	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:117199535G>A	uc003vjd.3	+	10	1542	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V	CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	470	ABC transporter 1.		V -> M (in dbSNP:rs213950).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTCTAATGGTGATTATGGGAG	0.393000									Cystic Fibrosis					36			18		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160106421	160106421	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:160106421C>T	uc001fvc.3	+	18	2757	c.2625C>T	c.(2623-2625)ttC>ttT	p.F875F	ATP1A2_uc001fvb.2_Silent_p.F875F|ATP1A2_uc001fvd.3_Silent_p.F594F	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	875					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAACGGTTTCCTGCCATCAC	0.582000														30			80		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27128356	27128356	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:27128356C>T	uc001zbd.2	+	4	784	c.252C>T	c.(250-252)ttC>ttT	p.F84F	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Silent_p.F84F	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	84					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F84F(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCACCAGCTTCGGCCCGGTGT	0.662000														7			34		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661906	139661906	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:139661906C>T	uc011kqv.2	+	9	1384	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	TBXAS1_uc003vvh.3_Silent_p.F337F|TBXAS1_uc010lne.3_Silent_p.F269F|TBXAS1_uc011kqu.2_Silent_p.F288F|TBXAS1_uc003vvi.3_Silent_p.F337F|TBXAS1_uc011kqw.2_Silent_p.F317F|TBXAS1_uc003vvj.3_Silent_p.F337F	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	336					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCCAGGCCTTCATCTTCCTCA	0.542000														29			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230954	21230954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:21230954C>T	uc002red.3	-	25	8914	c.8786G>A	c.(8785-8787)tGg>tAg	p.W2929*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2929					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGCCCATTTCCATGACCCTTT	0.483000														40			105		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584638	7584639	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:7584638_7584639GG>AA	uc003mxp.1	+	23	7422_7423	c.7143_7144GG>AA	c.(7141-7146)aaggag>aaAAag	p.E2382K	DSP_uc003mxq.1_Missense_Mutation_p.E1783K|DSP_uc021yle.1_Missense_Mutation_p.E1939K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2382	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGACCCAAAGGAGAGCCATCG	0.446000														15			44		0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884473	53884473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:53884473C>T	uc010eqn.3	+	3	726	c.533C>T	c.(532-534)tCt>tTt	p.S178F	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						AGAGAAAAATCTTTCCAATGT	0.333000														19			29		0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895279	56895279	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:56895279C>G	uc002qmy.3	-	4	1893	c.1600G>C	c.(1600-1602)Gca>Cca	p.A534P	ZNF582_uc002qmz.1_Missense_Mutation_p.A503P	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGGTTGCTTGCCAACATAAAT	0.383000														48			33		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55719064	55719064	+	Silent	SNP	C	T	T	rs146052293		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:55719064C>T	uc021tio.1	+	3	705	c.654C>T	c.(652-654)gtC>gtT	p.V218V	SLC6A2_uc002eif.3_Silent_p.V218V|SLC6A2_uc002eig.3_Silent_p.V218V|SLC6A2_uc002eii.3_Silent_p.V113V|SLC6A2_uc002eij.3_5'UTR	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	218					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGCGTGGTGTCCTGCACCTTC	0.592000														37			10		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799184	45799184	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:45799184G>A	uc001jcc.1	-	3	996	c.687C>T	c.(685-687)ttC>ttT	p.F229F	OR13A1_uc001jcd.1_Silent_p.F225F|OR13A1_uc021ppq.1_Silent_p.F229F	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGGTCATCAGGAAGTTCACTA	0.572000														12			39		0	0	1	0	0
PPIH	10465	broad.mit.edu	37	1	43130609	43130609	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:43130609C>T	uc001chq.3	+	5	389	c.319C>T	c.(319-321)Cca>Tca	p.P107S	PPIH_uc009vwl.2_Missense_Mutation_p.P64S|PPIH_uc021omf.1_Missense_Mutation_p.P64S	NM_006347	NP_006338	O43447	PPIH_HUMAN	Homo sapiens peptidylprolyl isomerase H (cyclophilin H) (PPIH), mRNA.	107	PPIase cyclophilin-type.				protein complex assembly|protein folding	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|cytoplasm|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	ACACTCAGCTCCAGGCCTGCT	0.502000														16			31		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129802083	129802083	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:129802083G>A	uc001qfm.3	-	9	1433	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	PRDM10_uc001qfj.3_Missense_Mutation_p.P315S|PRDM10_uc001qfk.3_Missense_Mutation_p.P315S|PRDM10_uc001qfl.3_Missense_Mutation_p.P315S|PRDM10_uc010sbx.2_Missense_Mutation_p.P315S|PRDM10_uc001qfn.3_Missense_Mutation_p.P401S|PRDM10_uc009zct.1_Missense_Mutation_p.P433S	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGTCGACCTGGACCGAATCGC	0.547000														27			13		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43227287	43227287	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:43227287G>A	uc003ouq.1	+	11	1546	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	423						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGTGGAGGAGGAACAGAGCCG	0.667000														8			20		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098368	13098368	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:13098368G>A	uc002wod.1	+	7	1437	c.1148G>A	c.(1147-1149)aGg>aAg	p.R383K		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	383					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATAGCTGGAAGGAAGGTAAGA	0.483000														55			25		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186015887	186015887	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:186015887C>T	uc003fqa.3	-	3	813	c.276G>A	c.(274-276)acG>acA	p.T92T	DGKG_uc003fqb.3_Silent_p.T92T|DGKG_uc003fqc.3_Silent_p.T92T|DGKG_uc011brx.2_Silent_p.T92T	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	92					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.P91P(1)|p.T92M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGGCTCCCTCCGTCGGGTGGT	0.617000														27			38		0	0	1	0	0
GPD1L	23171	broad.mit.edu	37	3	32181842	32181842	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:32181842C>T	uc003cew.3	+	3	690	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.	163					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	NAD binding|glycerol-3-phosphate dehydrogenase|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						CAGAGAAGTTCTGTGAGACCA	0.473000														44			15		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15854450	15854450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:15854450G>A	uc002ddx.3	-	11	1323	c.1216C>T	c.(1216-1218)Cct>Tct	p.P406S	MYH11_uc002ddv.3_Missense_Mutation_p.P406S|MYH11_uc002ddw.3_Missense_Mutation_p.P399S|MYH11_uc002ddy.3_Missense_Mutation_p.P399S|MYH11_uc010bvg.3_Missense_Mutation_p.P231S|MYH11_uc002dea.1_Missense_Mutation_p.P105S	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	399	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGATACGAGGAGTGAGGATG	0.453000			T	CBFB	AML									82			60		0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122734774	122734774	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:122734774C>T	uc003pyu.2	+	3	622	c.435C>T	c.(433-435)tcC>tcT	p.S145S	HSF2_uc003pyt.4_Silent_p.S145S|HSF2_uc003pyv.2_Silent_p.S145S	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	145	Hydrophobic repeat HR-A/B.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CTATTGAGTCCAGGCTTTCTG	0.323000														22			26		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41759578	41759578	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:41759578A>G	uc010ehj.3	+	16	2191	c.2001A>G	c.(1999-2001)agA>agG	p.R667R	AXL_uc010ehk.3_Silent_p.R658R	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	667	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTACCAAGAGATTCATACACC	0.602000														9			6		0	0	1	0	0
C5orf56	441108	broad.mit.edu	37	5	131822219	131822219	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:131822219G>A	uc010jds.2	+	3	763	c.380G>A	c.(379-381)gGg>gAg	p.G127E	IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.2_Intron			Q8N8D9	CE056_HUMAN	Homo sapiens chromosome 5 open reading frame 56 (C5orf56), non-coding RNA.	0										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CTGACCTGTGGGGTCTCCTGC	0.602000														3			11		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201477399	201477399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:201477399G>A	uc002uvx.3	+	13	1432	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	AOX1_uc010zhf.2_5'UTR|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	444					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCAATTCAGGAATGAGAGTC	0.468000														69			19		0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67964466	67964466	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:67964466G>A	uc002euw.3	-	4	367	c.344C>T	c.(343-345)tCt>tTt	p.S115F		NM_001907	NP_001898	P40313	CTRL_HUMAN	Homo sapiens chymotrypsin-like (CTRL), mRNA.	115	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CATGGTGGTAGAGTTCCAGCT	0.562000														79			73		0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392198	3392198	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:3392198C>T	uc002qxm.1	+	1	1010	c.804C>T	c.(802-804)ccC>ccT	p.P268P	TRAPPC12_uc002qxn.1_Silent_p.P268P|TRAPPC12_uc010ewm.1_Silent_p.P268P	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	268							binding										TGCGAGGGCCCCAGGCAGCTG	0.746000														15			4		0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148862	25148862	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:25148862T>C	uc001rgf.3	-	2	491	c.286A>G	c.(286-288)Act>Gct	p.T96A		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	96										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GCTGTTTCAGTAGAGATGGCA	0.478000														12			24		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647444	38647444	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:38647444C>T	uc021wvo.1	-	8	1388	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	SCN5A_uc021wvk.1_Missense_Mutation_p.E446K|SCN5A_uc021wvl.1_Missense_Mutation_p.E446K|SCN5A_uc021wvm.1_Missense_Mutation_p.E446K|SCN5A_uc021wvn.1_Missense_Mutation_p.E446K|SCN5A_uc021wvp.1_Missense_Mutation_p.E446K|SCN5A_uc021wvq.1_Missense_Mutation_p.E446K|SCN5A_uc021wvr.1_Missense_Mutation_p.E446K|SCN5A_uc021wvs.1_Missense_Mutation_p.E446K|SCN5A_uc021wvt.1_Missense_Mutation_p.E446K|SCN5A_uc021wvu.1_Missense_Mutation_p.E446K|SCN5A_uc021wvv.1_Missense_Mutation_p.E446K|SCN5A_uc021wvj.1_Missense_Mutation_p.E312K|SCN5A_uc021wvi.1_Missense_Mutation_p.E312K|SCN5A_uc021wvw.1_Missense_Mutation_p.E57K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	446					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.H445P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCACCCACCTCGTGTTCTTTC	0.562000														16			20		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14773987	14773987	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:14773987C>T	uc001rcd.3	-	22	2902	c.2765G>A	c.(2764-2766)gGa>gAa	p.G922E		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	922	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGAGTGAACTCCAATGCGAAT	0.458000														21			6		0	0	1	0	0
SOWAHD	347454	broad.mit.edu	37	X	118892654	118892654	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:118892654G>A	uc010nql.3	+	0	79	c.24G>A	c.(22-24)gcG>gcA	p.A8A		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member D (SOWAHD), mRNA.	8																	GAGGGGCCGCGAACCGGGCAC	0.731000														2			4		0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94526551	94526551	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:94526551G>A	uc001ycj.3	-	4	1905	c.1806C>T	c.(1804-1806)cgC>cgT	p.R602R	DDX24_uc010twq.2_Silent_p.R559R|DDX24_uc010twr.2_Silent_p.R352R	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	602	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCCCAGAGAGGCGTTTGATGC	0.502000														46			21		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83643565	83643565	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:83643565G>A	uc003uhz.3	-	6	1085	c.770C>T	c.(769-771)tCt>tTt	p.S257F		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	257	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGCTTTTCCAGAGTGTTCTCC	0.388000														29			27		0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44778815	44778815	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:44778815C>T	uc001ztr.3	+	3	808	c.392C>T	c.(391-393)tCc>tTc	p.S131F	CTDSPL2_uc001zts.3_Missense_Mutation_p.S131F|CTDSPL2_uc001ztt.3_Missense_Mutation_p.S131F|CTDSPL2_uc010bdv.3_Missense_Mutation_p.S131F	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA.	131							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GATAATCCTTCCTCTGGCAGT	0.328000														12			56		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845698	176845698	+	Silent	SNP	G	A	A	rs144976382	by1000genomes	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:176845698G>A	uc001glc.3	-	20	3650	c.3438C>T	c.(3436-3438)ccC>ccT	p.P1146P	ASTN1_uc001glb.1_Silent_p.P1146P|ASTN1_uc001gld.1_Silent_p.P1146P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1154					cell migration|neuron cell-cell adhesion	integral to membrane		p.C1145C(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATCCACCACGGGGCATGGGG	0.582000														88			12		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604962	58604962	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:58604962C>T	uc010tro.2	-	2	1427	c.1229G>A	c.(1228-1230)gGg>gAg	p.G410E	C14orf37_uc001xdc.3_Missense_Mutation_p.G372E|C14orf37_uc001xdd.3_Missense_Mutation_p.G372E|C14orf37_uc001xde.3_Missense_Mutation_p.G372E	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	372						integral to membrane	binding	p.S410F(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGTGTTTCCCCTTCAGGCAG	0.542000														74			67		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694688	42694688	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:42694688C>A	uc010ggo.3	+	6	1337	c.1297C>A	c.(1297-1299)Ccc>Acc	p.P433T	TOX2_uc002xle.4_Missense_Mutation_p.P391T|TOX2_uc010ggp.3_Missense_Mutation_p.P391T|TOX2_uc002xlf.4_Missense_Mutation_p.P415T|TOX2_uc010zwk.2_Missense_Mutation_p.P311T	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	415	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCCTGTCCTGCCCACCCCCAT	0.672000														24			5		0.184627	0.184841	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17056389	17056389	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:17056389C>T	uc002nfb.3	-	21	2936	c.2904G>A	c.(2902-2904)gtG>gtA	p.V968V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	921						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGACGTGATCCACCCCGATGG	0.597000														21			28		0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	72006631	72006631	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:72006631G>A	uc010mon.1	+	10	1368	c.1264G>A	c.(1264-1266)Ggg>Agg	p.G422R	FAM189A2_uc004ahg.2_Missense_Mutation_p.G422R|FAM189A2_uc010moo.1_Missense_Mutation_p.G159E	NM_001127608	NP_004807	Q15884	F1892_HUMAN	Homo sapiens family with sequence similarity 189, member A2 (FAM189A2), transcript variant 2, mRNA.	422						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CACACCAGCGGGGAGGCCCCG	0.677000														13			33		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18852825	18852825	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:18852825C>T	uc021qvx.1	-	9	1268	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	PLCZ1_uc001rdv.4_Silent_p.E255E|PLCZ1_uc001rdw.4_Silent_p.E100E|PLCZ1_uc001rdu.1_Silent_p.E141E|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	359	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTTTGAATTTCTCAGCTTTCG	0.313000														8			6		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161007487	161007487	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:161007487C>T	uc003qtl.3	-	25	4243	c.4123G>A	c.(4123-4125)Gaa>Aaa	p.E1375K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3883	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTACCTTCTTCAGAAGGAAGC	0.478000														38			13		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76563176	76563176	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:76563176G>A	uc010dhp.2	-	9	1482	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	DNAH17_uc002jvv.2_Missense_Mutation_p.L155F	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGCTCCCGAGGAGGTTCCCA	0.498000														2			15		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540276	40540276	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:40540276G>A	uc002omu.3	-	4	2555	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	ZNF780B_uc002omv.3_Silent_p.F682F	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACCCAAGTATGAATTTTCTGA	0.378000														19			9		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4112756	4112756	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:4112756C>T	uc021qco.1	+	11	2672	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	STIM1_uc001lyv.2_Silent_p.L596L|STIM1_uc009yef.2_3'UTR|STIM1_uc009yeg.2_Silent_p.L423L	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	596					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGCCCACAGCCTGATGGAGCT	0.622000														54			16		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36684955	36684956	+	Silent	DNP	GG	AA	AA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:36684955_36684956GG>AA	uc003apg.3	-	32	4818_4819	c.4587_4588CC>TT	c.(4585-4590)gcccta>gcTTta	p.1529_1530AL>AL		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1529					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGCTGCTCTAGGGCCCGCTTGG	0.629000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					60			32		0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090371	115090371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:115090371C>T	uc001vuv.3	+	2	1386	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	CHAMP1_uc010tko.2_Missense_Mutation_p.P352S|CHAMP1_uc010ahb.3_Missense_Mutation_p.P352S|CHAMP1_uc021rmx.1_Missense_Mutation_p.P352S	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	352	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										GAAACCAATTCCTTCTGTATC	0.517000														53			34		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51111250	51111250	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:51111250G>A	uc003tps.3	-	8	1592	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	COBL_uc003tpr.4_Silent_p.S412S|COBL_uc011kcl.2_Silent_p.S412S|COBL_uc010kzc.3_Silent_p.S412S|COBL_uc003tpp.4_Silent_p.S198S|COBL_uc003tpq.4_Silent_p.S353S	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	412										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGTCTGAGGGGGAACTCATCA	0.587000														31			25		0	0	1	0	0
TDGF1	6997	broad.mit.edu	37	3	46621264	46621264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:46621264G>A	uc003cpv.3	+	3	643	c.259G>A	c.(259-261)Gga>Aga	p.G87R	LRRC2_uc003cpu.4_Intron|TDGF1_uc021wxd.1_Missense_Mutation_p.G71R	NM_003212	NP_001167607	P13385	TDGF1_HUMAN	Homo sapiens teratocarcinoma-derived growth factor 1 (TDGF1), transcript variant 1, mRNA.	87	EGF-like.				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	p.G86W(1)|p.G87E(1)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCTGAATGGGGGAACCTGCAT	0.532000														62			31		0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59147776	59147776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:59147776G>A	uc009wab.2	-	7	963	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	314					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TTAAATTTCTGGTCATTTAAT	0.358000														39			120		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270331	53270331	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:53270331G>A	uc002qab.4	-	2	964	c.678C>T	c.(676-678)tcC>tcT	p.S226S	ZNF600_uc021uyz.1_Silent_p.S226S	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CCTGACTGAAGGACTTTCCAC	0.408000														64			53		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707697	50707697	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:50707697C>T	uc002egk.2	-	3	744	c.571G>A	c.(571-573)Gag>Aag	p.E191K	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	191	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CCGAAAGCCTCGCGCAGCTCC	0.736000														4			7		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755436	141755436	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:141755436C>T	uc003vwy.3	+	27	3447	c.3393C>T	c.(3391-3393)ctC>ctT	p.L1131L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1131	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAAGTACCTCTATGGCTTTG	0.532000														22			30		0	0	1	0	0
LIX1L	128077	broad.mit.edu	37	1	145492376	145492376	+	Splice_Site	SNP	G	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:145492376G>T	uc001enr.3	+	3	671	c.597_splice	c.e3+1	p.N199_splice		NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN	Homo sapiens Lix1 homolog (mouse)-like (LIX1L), mRNA.	199										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATCTTTTAATGTAAGTTGTAT	0.433000														65			16		1.45105e-14	1.47237e-14	1	1	0
CD1A	909	broad.mit.edu	37	1	158224896	158224896	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:158224896C>T	uc001frt.3	+	1	614	c.81C>T	c.(79-81)ttC>ttT	p.F27F	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	27					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTCTCTCCTTCCATGTCACCT	0.488000														99			20		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980750	121980750	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:121980750G>A	uc003eew.4	+	3	1306	c.868G>A	c.(868-870)Ggc>Agc	p.G290S	CASR_uc003eev.4_Missense_Mutation_p.G290S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	290					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAATATCACGGGCAAGATCTG	0.567000														75			22		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743333	98743333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:98743333C>T	uc001kmv.3	+	0	2293	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	729										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TTGACCTCTTCAACCTACAAC	0.488000														5			31		0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84368028	84368028	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:84368028G>A	uc003hom.3	-	3	1531	c.1352C>T	c.(1351-1353)aCt>aTt	p.T451I	HELQ_uc010ikb.3_Intron|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	451	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AATTCTTCCAGTTTCAATCAA	0.328000								Other identified genes with known or suspected DNA repair function						54			26		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544650	186544650	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:186544650G>A	uc003iyg.3	-	12	2295	c.2263C>T	c.(2263-2265)Cac>Tac	p.H755Y	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.H741Y|SORBS2_uc003iyl.3_Missense_Mutation_p.H641Y|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.H545Y|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	641						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		tggtggtggtggtggCTGGAT	0.517000														14			29		0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219525985	219525985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:219525985C>T	uc002vip.3	+	2	621	c.275C>T	c.(274-276)tCc>tTc	p.S92F	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Missense_Mutation_p.S92F|BCS1L_uc010fvu.3_Missense_Mutation_p.S92F|BCS1L_uc010fvv.3_Missense_Mutation_p.S92F|BCS1L_uc002vis.3_Missense_Mutation_p.S92F|BCS1L_uc021vwz.1_Missense_Mutation_p.S92F	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	92					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCGCATTTCCACTAAGTTT	0.527000														120			31		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202306	140202306	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:140202306G>A	uc003lhl.2	+	0	946	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.E316K|PCDHAC2_uc003lhj.1_Missense_Mutation_p.E316K	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	332	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACTCATATGAAATTAATAT	0.323000														11			12		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111003	114111003	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:114111003G>A	uc003ynu.3	-	4	1058	c.899C>T	c.(898-900)tCt>tTt	p.S300F	CSMD3_uc003ynt.3_Missense_Mutation_p.S260F|CSMD3_uc011lhx.2_Missense_Mutation_p.S300F|CSMD3_uc010mcx.1_Missense_Mutation_p.S300F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	300	CUB 2.					integral to membrane|plasma membrane		p.S300F(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTGGCTCAGAACCTTCTAT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				16			9		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1265070	1265070	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:1265070C>T	uc002cks.3	+	27	5276	c.5028C>T	c.(5026-5028)ttC>ttT	p.F1676F	CACNA1H_uc002ckt.3_Silent_p.F1670F|CACNA1H_uc002cku.3_Silent_p.F382F|CACNA1H_uc010brj.3_Silent_p.F387F|CACNA1H_uc002ckv.3_Silent_p.F376F	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1676					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.R1675Q(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCGTCGGTTCTTCAAGGACA	0.617000														10			10		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14947797	14947797	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:14947797C>T	uc002dcv.3	+	8	943	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	293						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTTCCAGATTCCGTTCTATCG	0.438000														68			43		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536215	186536215	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:186536215G>A	uc003iyg.3	-	15	3112	c.3080C>T	c.(3079-3081)cCg>cTg	p.P1027L	SORBS2_uc003iyh.3_Missense_Mutation_p.P637L|SORBS2_uc011ckw.2_Missense_Mutation_p.P474L|SORBS2_uc003iyi.3_Missense_Mutation_p.P544L|SORBS2_uc011ckx.2_Missense_Mutation_p.P479L|SORBS2_uc003iyk.3_Missense_Mutation_p.P457L|SORBS2_uc003iym.3_Missense_Mutation_p.P1013L|SORBS2_uc003iyl.3_Missense_Mutation_p.P913L|SORBS2_uc003iyn.1_Missense_Mutation_p.P504L|SORBS2_uc011cku.2_Missense_Mutation_p.P305L|SORBS2_uc011ckv.2_Missense_Mutation_p.P817L|SORBS2_uc003iyd.3_Missense_Mutation_p.P612L|SORBS2_uc003iye.3_Missense_Mutation_p.P486L|SORBS2_uc003iya.3_Missense_Mutation_p.P433L|SORBS2_uc003iyb.3_Missense_Mutation_p.P386L|SORBS2_uc003iyc.3_Missense_Mutation_p.P366L|SORBS2_uc003iyf.3_Missense_Mutation_p.P449L|SORBS2_uc003iyo.1_Missense_Mutation_p.P362L	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	913						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTATGAGATCGGGAAGATGCC	0.443000														24			25		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134108517	134108517	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:134108517C>T	uc003ytw.3	+	42	7513	c.7472C>T	c.(7471-7473)cCt>cTt	p.P2491L	TG_uc010mdw.3_Missense_Mutation_p.P1250L|TG_uc011ljb.2_Missense_Mutation_p.P860L|TG_uc011ljc.2_Missense_Mutation_p.P624L|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2491					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCGTGAGCCTCCAGCCAGA	0.547000														140			91		0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52185054	52185054	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:52185054G>A	uc003dcu.3	-	1	399	c.81C>T	c.(79-81)ttC>ttT	p.F27F	POC1A_uc003dcv.3_5'UTR|POC1A_uc003dcw.3_Silent_p.F27F	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	27						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TGTTGATACTGAAGTCCACAC	0.537000														94			28		0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40345070	40345071	+	Missense_Mutation	DNP	AA	TG	TG			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:40345070_40345071AA>TG	uc010skm.2	-	3	1073_1074	c.1022_1023TT>CA	c.(1021-1023)att>aCA	p.I341T	SLC2A13_uc001rmf.3_Missense_Mutation_p.I341T	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	341						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TGATGGTGTTAATGCCTGAGAG	0.386000										HNSCC(50;0.14)				13			12		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071520	240071520	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:240071520G>A	uc021plc.1	+	0	769	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	CHRM3_uc001hyp.3_Missense_Mutation_p.E257K	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	257					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GATCTATAAGGAAACTGAAAA	0.483000														23			60		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430821	43430821	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:43430821C>T	uc002ovl.4	-	4	856	c.754G>A	c.(754-756)Gag>Aag	p.E252K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.E131K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	253	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				TCCTTATTCTCCCTGGGGTTT	0.488000														104			96		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30958413	30958413	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:30958413G>C	uc003xio.4	+	17	2818	c.2030G>C	c.(2029-2031)gGg>gCg	p.G677A	WRN_uc010lvk.3_Missense_Mutation_p.G144A	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	677	Helicase ATP-binding.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCTGAGTGGGGGCATGATTTT	0.408000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					15			8		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201185595	201185596	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:201185595_201185596CC>TT	uc001gwc.3	+	15	9439_9440	c.9309_9310CC>TT	c.(9307-9312)ccccca>ccTTca	p.P3104S	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCCTGATCCCCCACAAGGCCC	0.673000														10			26		0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65856974	65856974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:65856974C>T	uc001ssn.3	+	5	577	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	MSRB3_uc009zqp.3_Missense_Mutation_p.R144C|MSRB3_uc001ssm.3_Missense_Mutation_p.R144C|MSRB3_uc021qzy.1_Missense_Mutation_p.R144C	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	151					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGATGGGCCTCGTCCAACTGG	0.517000														41			57		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039077	75039077	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:75039077C>T	uc001dgg.3	-	13	2536	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	773	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCATTGCTTCTTTCTTCTCC	0.473000														35			97		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73821044	73821044	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:73821044C>T	uc011dyh.2	+	6	1390	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	KCNQ5_uc003pgj.4_Missense_Mutation_p.S348L|KCNQ5_uc011dyi.2_Missense_Mutation_p.S348L|KCNQ5_uc010kat.3_Missense_Mutation_p.S348L|KCNQ5_uc003pgk.3_Missense_Mutation_p.S348L|KCNQ5_uc011dyj.2_Missense_Mutation_p.S348L|KCNQ5_uc011dyk.2_Missense_Mutation_p.S107L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	348					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATTCTTGGCTCAGGTTTTGCA	0.348000														40			15		0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74269665	74269665	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:74269665G>A	uc001vjf.3	-	7	1393	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	KLF12_uc010aeq.3_Missense_Mutation_p.H391Y	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	391					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AGGGCCAAATGATCTGACCGG	0.547000														30			21		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403501	69403501	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:69403501C>T	uc021xov.1	-	5	1478	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	479					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TGGGCTGCGACCCGAAGGTGC	0.483000														89			29		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121767706	121767706	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:121767706G>A	uc003ksw.1	+	5	1431	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.E409K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E43K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E456K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E43K|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Missense_Mutation_p.E43K|SNCAIP_uc003kta.1_Missense_Mutation_p.E41K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E103K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E349K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	409					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GAGCGAAACAGAAGCCATTGC	0.408000														3			8		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141243007	141243007	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:141243007G>A	uc002tvj.1	-	58	10302	c.9330C>T	c.(9328-9330)atC>atT	p.I3110I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3110					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R3109I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATACTTCAATGATTCTTTTTT	0.413000										TSP Lung(27;0.18)				50			11		0	0	1	0	0
HNMT	3176	broad.mit.edu	37	2	138759672	138759672	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:138759672T>C	uc002tvf.3	+	3	591	c.337T>C	c.(337-339)Ttt>Ctt	p.F113L		NM_006895	NP_008826	P50135	HNMT_HUMAN	Homo sapiens histamine N-methyltransferase (HNMT), transcript variant 1, mRNA.	113					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GAACGTAAAGTTTGCTTGGCA	0.373000														34			6		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32711037	32711037	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:32711037C>T	uc001utx.3	+	10	1603	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTGTTTGCTCTGTGTCAGTC	0.443000														28			27		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675573	183675573	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:183675573C>T	uc003ivd.1	+	20	4128	c.4053C>T	c.(4051-4053)aaC>aaT	p.N1351N	ODZ3_uc003ive.1_Silent_p.N764N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1351					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TAGCCATTAACCCTATGGATA	0.423000														4			6		0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55481241	55481241	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:55481241A>G	uc002ryn.3	-	7	1337	c.600T>C	c.(598-600)ttT>ttC	p.F200F	MTIF2_uc010yox.2_Intron|MTIF2_uc002ryo.3_Silent_p.F200F	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	200	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GAGTTTTTCGAAATTTGTCAA	0.453000														55			11		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75100492	75100492	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:75100492G>A	uc002snd.3	+	4	2511	c.585G>A	c.(583-585)agG>agA	p.R195R		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	195	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCATCCAGAGGAGAGGGGTGA	0.557000														55			7		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954605	70954605	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:70954605C>T	uc002ezr.3	-	45	7822	c.7671G>A	c.(7669-7671)ggG>ggA	p.G2557G		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2558										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				tctccttcttcccttcgtggt	0.632000														8			6		0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3423084	3423084	+	RNA	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:3423084C>T	uc010qxs.1	+	3		c.383C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CACGCACTCTCCGTTCAGGGC	0.587000														9			10		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793107	65793107	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:65793107G>A	uc001ogt.3	-	0	882	c.744C>T	c.(742-744)tcC>tcT	p.S248S		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	248	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGGAATGAGGGGAAATGGTCT	0.577000														15			6		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876008	2876008	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:2876008G>A	uc022aqr.1	-	51	8410	c.8020C>T	c.(8020-8022)Cga>Tga	p.R2674*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.R2004*|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2675	Sushi 17.					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)		CCCAGACATCGAGTTTCGCTG	0.458000														118			93		0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3330272	3330272	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:3330272G>A	uc003zhr.3	-	4	773	c.461C>T	c.(460-462)gCc>gTc	p.A154V	RFX3_uc010mhd.3_Missense_Mutation_p.A154V|RFX3_uc003zhs.1_Missense_Mutation_p.A154V|RFX3_uc003zht.1_Missense_Mutation_p.A154V|RFX3_uc010mhe.1_Missense_Mutation_p.A154V	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	154					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CGCTGGGGAGGCCCGAGTTGT	0.433000														24			10		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153216280	153216280	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:153216280G>A	uc004fjp.3	-	22	6215	c.5687C>T	c.(5686-5688)gCc>gTc	p.A1896V		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1896					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATTTTAATGGCACAAGGGGC	0.592000														11			97		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316096	125316096	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:125316096C>T	uc011lyx.2	+	0	648	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGCTGATGATCATCACCATGG	0.502000														92			29		0	0	1	0	0
SRRD	402055	broad.mit.edu	37	22	26881996	26881996	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:26881996C>T	uc010gve.3	+	1	224	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	HPS4_uc003ack.3_5'Flank|HPS4_uc003acl.3_5'Flank|HPS4_uc003acn.3_5'Flank|HPS4_uc010gvd.1_5'Flank|SRRD_uc003acp.4_Silent_p.L66L	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	73					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CAGGAAGGACCTGTTTATCTC	0.473000														37			25		0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71063662	71063662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:71063662C>T	uc003hfc.3	+	3	180	c.163C>T	c.(163-165)Cca>Tca	p.P55S		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	55					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TTCATGGATTCCACCTTTCTC	0.428000														54			64		0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967557	48967557	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:48967557C>T	uc002pje.1	+	2	1239	c.834C>T	c.(832-834)atC>atT	p.I278I	KCNJ14_uc002pjf.1_Silent_p.I278I	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	278						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TCCATGAGATCGACTCTGCCA	0.582000														16			15		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164168	139164168	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:139164168C>T	uc003yuy.3	-	12	2721	c.2550G>A	c.(2548-2550)ggG>ggA	p.G850G	FAM135B_uc003yux.3_Silent_p.G751G|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.G412G|FAM135B_uc003yvb.3_Silent_p.G412G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	850										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTTCCCTTTCCCTTTGGGGA	0.488000										HNSCC(54;0.14)				43			29		0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97935801	97935801	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:97935801C>T	uc003upj.3	-	10	1454	c.1191G>A	c.(1189-1191)acG>acA	p.T397T	hCG_2023280_uc003upk.1_5'Flank	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	397	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGCAACTTCGTGTACGACG	0.567000														61			23		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17570710	17570710	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:17570710C>T	uc001bah.1	+	15	2056	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	PADI1_uc010oco.1_Missense_Mutation_p.P212L|PADI1_uc010ocp.1_Missense_Mutation_p.P170L|PADI1_uc010ocq.1_Missense_Mutation_p.P126L|PADI1_uc009vpb.1_Missense_Mutation_p.P49S	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	655					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AAGCCCTTTCCCTTCAAATGG	0.597000														17			73		0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12758944	12758944	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:12758944G>A	uc002dca.4	-	3	855	c.744C>T	c.(742-744)taC>taT	p.Y248Y	CPPED1_uc002dcb.4_Silent_p.Y106Y	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	248							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CATTCCTGTGGTAGTGGCCTG	0.562000														24			26		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53577486	53577486	+	Silent	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:53577486A>G	uc010eqk.3	-	5	594	c.178T>C	c.(178-180)Ttg>Ctg	p.L60L	ZNF160_uc002qaq.4_Silent_p.L60L|ZNF160_uc002qar.4_Silent_p.L60L|ZNF160_uc002qas.4_Silent_p.L60L	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	60	KRAB.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CCTTCCTCCAACATGGAGATA	0.443000														31			35		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537667	1537667	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:1537667G>A	uc010uvf.2	-	1	431	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	149						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GTCCTGCAGGGCGTCCCTCTG	0.716000														39			20		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390074	150390074	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:150390074G>A	uc003who.3	+	2	788	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	234						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGATCAGATGAAAGAGTAAA	0.403000														26			24		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053502	17053502	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:17053502G>A	uc011awc.2	+	2	2736	c.2640G>A	c.(2638-2640)aaG>aaA	p.K880K	PLCL2_uc011awd.2_Silent_p.K762K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	888					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAGGAGGAAAGCCTCATAAAA	0.468000														31			20		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20177255	20177255	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:20177255C>T	uc002wru.3	+	15	1746	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	C20orf26_uc010zse.2_Silent_p.F524F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	544										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTGAAGATTTCATCTACTTCA	0.448000														56			21		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66998292	66998292	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:66998292G>C	uc002eqt.3	+	4	672	c.593G>C	c.(592-594)gGc>gCc	p.G198A	CES3_uc010cdz.3_Missense_Mutation_p.G198A	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	198						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGCAACCAGGGCTTCCTAGAT	0.587000														29			21		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31441268	31441268	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:31441268G>A	uc001bsi.1	-	10	1691	c.1578C>T	c.(1576-1578)ccC>ccT	p.P526P	PUM1_uc001bsf.1_Silent_p.P192P|PUM1_uc001bsh.1_Silent_p.P526P|PUM1_uc001bsj.1_Silent_p.P527P|PUM1_uc010oga.1_Silent_p.P430P|PUM1_uc001bsk.1_Silent_p.P562P|PUM1_uc010ogb.1_Silent_p.P467P|SNORD85_uc001bsl.1_5'Flank	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	526	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCCACAAGGGGATCCGTTT	0.537000														24			66		0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80770329	80770329	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:80770329G>A	uc003khp.3	-	6	696	c.485C>T	c.(484-486)cCa>cTa	p.P162L	SSBP2_uc003khn.3_Missense_Mutation_p.P36L|SSBP2_uc011ctr.2_Missense_Mutation_p.P132L|SSBP2_uc003kho.3_Missense_Mutation_p.P162L|SSBP2_uc011ctp.2_Missense_Mutation_p.P142L|SSBP2_uc011ctq.2_Missense_Mutation_p.P132L	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	162	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTGTCGAGTTGGATCCATTCC	0.343000														4			9		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53683083	53683083	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:53683083C>T	uc001sck.2	+	20	5009	c.4918C>T	c.(4918-4920)Ctc>Ttc	p.L1640F	ESPL1_uc001scj.2_Missense_Mutation_p.L1315F	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1640					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCACAGACAGCTCAGGTGGGT	0.597000														56			21		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287272	202287272	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:202287272C>T	uc001gxu.3	+	17	1841	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	LGR6_uc001gxv.3_Missense_Mutation_p.S562F|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.S475F	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	614						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ACTGGCATTTCCTGTGGCCTT	0.637000														68			10		0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136700969	136700969	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:136700969G>A	uc002tux.1	-	4	586	c.402C>T	c.(400-402)gaC>gaT	p.D134D	DARS_uc010fnj.1_Silent_p.D34D	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	134					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GTAACTCAACGTCTTGCTGTG	0.323000														30			79		0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8416601	8416601	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:8416601G>A	uc010idk.3	-	3	578	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	ACOX3_uc003glc.4_Nonsense_Mutation_p.Q145*|ACOX3_uc003gld.4_Nonsense_Mutation_p.Q145*	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	145					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAGATCTTTTGAATATATGTG	0.398000														24			28		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7247260	7247260	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:7247260G>A	uc002ggd.2	+	7	860	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	218	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGTATCGAAAGGAGCTGGGCG	0.652000														4			9		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761354	92761354	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:92761354C>T	uc003umh.1	-	4	5147	c.3931G>A	c.(3931-3933)Gat>Aat	p.D1311N	SAMD9L_uc003umj.1_Missense_Mutation_p.D1311N|SAMD9L_uc003umi.1_Missense_Mutation_p.D1311N|SAMD9L_uc010lfb.1_Missense_Mutation_p.D1311N|SAMD9L_uc003umk.1_Missense_Mutation_p.D1311N|SAMD9L_uc010lfc.1_Missense_Mutation_p.D1311N|SAMD9L_uc010lfd.1_Missense_Mutation_p.D1311N|SAMD9L_uc022ahh.1_Missense_Mutation_p.D1311N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1311								p.L1310L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGACATGGATCCAAATGACAG	0.378000														37			11		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41045827	41045827	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chrX:41045827C>T	uc004dfb.3	+	23	4249	c.3616C>T	c.(3616-3618)Cct>Tct	p.P1206S	USP9X_uc004dfc.3_Missense_Mutation_p.P1206S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1206					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCAGAGCATTCCTAATCCATC	0.378000														9			37		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861586	52861586	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:52861586G>A	uc003gzi.3	-	3	1609	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	534						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCCATTCTCCGAGAATATCAT	0.512000														64			24		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25760646	25760646	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:25760646G>A	uc003gru.4	-	20	3152	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I	SEL1L3_uc003grv.3_Silent_p.I407I	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	1000						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TATGGTGTGGGATTATCGTAC	0.408000														22			32		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100171164	100171164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:100171164G>A	uc002taf.3	-	21	3535	c.3391C>T	c.(3391-3393)Ccg>Tcg	p.P1131S	AFF3_uc002tag.3_Missense_Mutation_p.P1106S	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1106					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCCCCCACGGAGATGGGGCT	0.512000														10			34		0	0	1	0	0
FOXO1	2308	broad.mit.edu	37	13	41134688	41134688	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:41134688G>A	uc001uxl.4	-	1	1325	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	FOXO1_uc010acc.1_Missense_Mutation_p.R129C	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	314					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTTCGAGGGCGAAATGTACTC	0.498000														48			21		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153366	5153366	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:5153366C>T	uc010qyx.2	-	0	507	c.507G>A	c.(505-507)ctG>ctA	p.L169L		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATAGTGTTTCAGACAGCATT	0.453000														45			11		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141592000	141592000	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:141592000G>C	uc010ioj.3	-	6	1412	c.1140C>G	c.(1138-1140)ttC>ttG	p.F380L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	380						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGCAAATAGGAAGGTCATCC	0.448000														64			18		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201030572	201030572	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:201030572G>A	uc001gvv.3	-	24	3305	c.3078C>T	c.(3076-3078)tcC>tcT	p.S1026S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1026	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCCGCATTGGAGTCTATGG	0.537000														56			16		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35776282	35776282	+	Silent	SNP	G	A	A	rs6073495		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:35776282G>A	uc010zvu.2	-	10	1196	c.1105C>T	c.(1105-1107)Cta>Tta	p.L369L	C20orf132_uc002xgk.3_Silent_p.L52L|C20orf132_uc002xgm.2_Silent_p.L369L|C20orf132_uc002xgn.2_Silent_p.L334L	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	254										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGAGCCACTAGGTGTCCAAGT	0.493000														9			19		0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683143	50683143	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:50683143C>T	uc003day.2	+	8	1273	c.631C>T	c.(631-633)Cct>Tct	p.P211S	MAPKAPK3_uc003daz.2_Missense_Mutation_p.P211S|MAPKAPK3_uc003dba.2_Missense_Mutation_p.P211S|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.P211S	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	211	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CCTGGCAGCCCCTGAGGTCCT	0.612000														22			10		0	0	1	0	0
IFNA4	3441	broad.mit.edu	37	9	21187354	21187354	+	Silent	SNP	G	A	A	rs147890478		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:21187354G>A	uc003zon.2	-	0	245	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_021068	NP_066546	P05014	IFNA4_HUMAN	Homo sapiens interferon, alpha 4 (IFNA4), mRNA.	59					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.F59F(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CGGGGAATCCGAAATCATGTC	0.517000														85			31		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751917	247751917	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:247751917G>A	uc010pyy.2	+	0	256	c.256G>A	c.(256-258)Gta>Ata	p.V86I		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCAGCTCCTGGTAAACCTGTG	0.522000														153			22		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659435	176659435	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:176659435C>T	uc001gkz.3	+	4	3464	c.2300C>T	c.(2299-2301)aCg>aTg	p.T767M	PAPPA2_uc001gky.1_Missense_Mutation_p.T767M|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	767					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCATGGAAACGGGAGACCTC	0.567000														51			94		0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151056103	151056103	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:151056103G>A	uc003eyw.1	-	1	747	c.531C>T	c.(529-531)ttC>ttT	p.F177F	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Silent_p.F177F|P2RY12_uc021xga.1_Silent_p.F177F	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	177					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CTGATTTAAGGAAAGAGCATT	0.368000														30			36		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152639303	152639303	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:152639303C>T	uc021zhb.1	-	83	16708	c.16485G>A	c.(16483-16485)aaG>aaA	p.K5495K	SYNE1_uc003qos.4_Silent_p.K19K|SYNE1_uc003qot.4_Silent_p.K5424K|SYNE1_uc003qou.4_Silent_p.K5495K|SYNE1_uc010kiz.3_Silent_p.K1250K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5495					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGCCAGTGGCTTACCCAGTT	0.453000										HNSCC(10;0.0054)				37			25		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510903	110510903	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:110510903T>C	uc003yne.3	+	66	10835	c.10731T>C	c.(10729-10731)tgT>tgC	p.C3577C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3577					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGGATTTGTTGGCCTACCT	0.398000										HNSCC(38;0.096)				21			10		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55518029	55518029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:55518029G>A	uc002ehz.4	+	2	793	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	MMP2_uc010vhd.2_Missense_Mutation_p.R85Q|MMP2_uc010ccc.3_Missense_Mutation_p.R111Q	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	161	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.R161Q(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CGGTTTTCTCGAATCCATGAT	0.547000														29			18		0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49434750	49434750	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr20:49434750G>A	uc002xvq.3	+	1	247	c.183G>A	c.(181-183)gcG>gcA	p.A61A	BCAS4_uc002xvp.1_Silent_p.A61A|BCAS4_uc002xvr.3_Silent_p.A61A|BCAS4_uc002xvs.3_Silent_p.A61A	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	61		Breakpoint for translocation to form BCAS4-BCAS3.				cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						TTTTTCAGGCGAAGGAGGTGG	0.488000											OREG0026033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			17		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48438486	48438486	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:48438486G>A	uc001jfb.3	-	0	653	c.225C>T	c.(223-225)gtC>gtT	p.V75V	GDF10_uc009xnp.3_Silent_p.V75V|GDF10_uc009xnq.2_Silent_p.V75V	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	75					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGTGGACAGCGACCATGTCCT	0.721000														1			7		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7506650	7506650	+	Splice_Site	SNP	A	G	G			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:7506650A>G	uc002mgi.3	+	2	908	c.655_splice	c.e2+1	p.D219_splice	ARHGEF18_uc010xjm.1_Splice_Site_p.D61_splice|ARHGEF18_uc002mgh.3_Splice_Site_p.D61_splice	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	219					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TTTTTGTAGAAGGTATGGTCA	0.512000														87			25		0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79609460	79609460	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr17:79609460C>T	uc010die.3	+	0	128	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	TSPAN10_uc021ufc.1_Missense_Mutation_p.P46S|TSPAN10_uc002kaw.2_Missense_Mutation_p.P8S|TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	8						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGAGAGGAGCCCCTTACTGTC	0.642000														11			47		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218674599	218674599	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:218674599G>A	uc002vgt.2	-	29	5306	c.4908C>T	c.(4906-4908)atC>atT	p.I1636I	TNS1_uc002vgr.2_Silent_p.I1622I|TNS1_uc002vgs.2_Silent_p.I1615I|TNS1_uc002vgq.2_Silent_p.I136I	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1636						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGAAGTGAACGATGGTGGCAG	0.562000														29			5		0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412606	50412606	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:50412606G>A	uc002prb.3	-	1	703	c.459C>T	c.(457-459)acC>acT	p.T153T	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.T153T|NUP62_uc002pqy.3_Silent_p.T153T|NUP62_uc002pra.3_Silent_p.T153T|NUP62_uc002pqz.3_Silent_p.T153T|NUP62_uc002prc.3_Silent_p.T153T|NUP62_uc021uya.1_Silent_p.T153T	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	153	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTCCAGATGTGGTAGCTGGAG	0.602000														37			15		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605935	58605935	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:58605935C>T	uc010tro.2	-	2	454	c.256G>A	c.(256-258)Gat>Aat	p.D86N	C14orf37_uc001xdc.3_Missense_Mutation_p.D48N|C14orf37_uc001xdd.3_Missense_Mutation_p.D48N|C14orf37_uc001xde.3_Missense_Mutation_p.D48N	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	48						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TTCATCTTATCGGACTGCCCT	0.478000														141			43		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655765	138655765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:138655765G>A	uc003qhu.3	+	32	5953	c.5782G>A	c.(5782-5784)Gag>Aag	p.E1928K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1928					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGTATGGAGGAGCCTCCCAT	0.572000														21			28		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880740	142880740	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:142880740G>A	uc011ksw.2	+	0	229	c.229G>A	c.(229-231)Gtt>Att	p.V77I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	77					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CAGGATCCTGGTTTTCCTGAG	0.408000														39			32		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59266363	59266363	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:59266363C>T	uc001sqr.3	-	18	3597	c.3351G>A	c.(3349-3351)ttG>ttA	p.L1117L	LRIG3_uc009zqh.3_Silent_p.L1057L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	1117						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCTATGTGTCCAAGTCATAAG	0.323000			T	ROS1	NSCLC									16			20		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177146478	177146478	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr4:177146478G>A	uc003iuq.2	-	1	325	c.211C>T	c.(211-213)Cga>Tga	p.R71*	ASB5_uc003iup.2_Nonsense_Mutation_p.R18*	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	71					intracellular signal transduction			p.R71*(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGTGGTGATCGATCTGCCCAG	0.363000														23			22		0	0	1	0	0
FXC1	26515	broad.mit.edu	37	11	6503414	6503414	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:6503414C>T	uc001mdn.4	+	2	345	c.275C>T	c.(274-276)gCt>gTt	p.A92V	ARFIP2_uc001mdk.3_5'Flank|ARFIP2_uc010ran.2_5'Flank|ARFIP2_uc010ral.2_5'Flank|ARFIP2_uc010ram.2_5'Flank|ARFIP2_uc009yfe.2_5'Flank|FXC1_uc001mdo.4_Non-coding_Transcript	NM_012192	NP_036324	Q9Y5J6	TIM9B_HUMAN	Homo sapiens fracture callus 1 homolog (rat) (FXC1), nuclear gene encoding mitochondrial protein, mRNA.	92					cell-matrix adhesion|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	metal ion binding						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.26e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAGGCGTTGCTGCTGAACAG	0.632000														13			24		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2235405	2235405	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:2235405G>A	uc010bsg.1	-	10	1085	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	351					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCCTGCTCGGGAACCTGTGG	0.642000														13			16		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410201	105410201	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:105410201G>A	uc010axc.1	-	6	11707	c.11587C>T	c.(11587-11589)Caa>Taa	p.Q3863*	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.Q3763*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3863						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGCGAGCTTGGACCGTCAGG	0.612000														98			145		0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20404018	20404018	+	Silent	SNP	G	A	A	rs143685077		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:20404018G>A	uc002rdo.1	-	2	482	c.183C>T	c.(181-183)acC>acT	p.T61T	SDC1_uc002rdp.1_Silent_p.T61T|SDC1_uc010exv.3_Silent_p.T61T|SDC1_uc010exw.1_Non-coding_Transcript	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	61					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		AAGTGGAGGGGGTCTGCTGTG	0.617000														154			25		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992888	124992888	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:124992888C>T	uc003yqw.3	+	10	1453	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	416						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTAAATTTTCCAAGGCCCTG	0.458000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			36		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29631876	29631876	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:29631876G>A	uc001bru.3	+	18	2915	c.2786G>A	c.(2785-2787)cGa>cAa	p.R929Q	PTPRU_uc009vtq.3_Missense_Mutation_p.R919Q|PTPRU_uc009vtr.3_Missense_Mutation_p.R919Q|PTPRU_uc001brw.3_Missense_Mutation_p.R919Q	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	929	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.H928Q(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GATCGGCACCGAGTGAAACTG	0.567000														129			8		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973317	235973317	+	Silent	SNP	T	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:235973317T>C	uc001hxj.2	-	4	976	c.801A>G	c.(799-801)aaA>aaG	p.K267K	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.K267K	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	267					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTTACAAACTTTTTCTAATA	0.388000														18			38		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685498	47685498	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:47685498C>T	uc001cqx.2	-	3	1467	c.890G>A	c.(889-891)gGg>gAg	p.G297E	TAL1_uc009vyq.2_Missense_Mutation_p.G54R|TAL1_uc001cqy.2_Missense_Mutation_p.G297E	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	297					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTGGCTGCCCCATCCAGGGA	0.721000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									27			77		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	14	36841045	36841045	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:36841045C>T	uc001wtp.3	+	0	676	c.427C>T	c.(427-429)Cct>Tct	p.P143S		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	143						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TGGATGGGATCCTTCTGAGAA	0.398000														45			60		0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179437811	179437811	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:179437811C>T	uc003fkh.3	+	6	970	c.889C>T	c.(889-891)Cat>Tat	p.H297Y		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	297					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.H297N(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGATATGCTTCATATGCATGG	0.413000														33			366		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52537603	52537603	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr15:52537603G>A	uc010bff.3	-	17	2288	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	709	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATCGCTGAAGGAAAGCTCTTG	0.498000														11			60		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710693	117710693	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:117710693C>T	uc003pxp.1	-	11	1778	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	527					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)		ACGATGAATTCATTAAAAGAC	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									27			28		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402308	67402308	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:67402308G>A	uc001omp.3	-	2	444	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	119					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						GTCGTCCAGGGGGATGAAGTC	0.622000														38			29		0	0	1	0	0
CYTH2	9266	broad.mit.edu	37	19	48977536	48977536	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:48977536C>T	uc002pjj.4	+	6	945	c.645C>T	c.(643-645)gcC>gcT	p.A215A		NM_017457	NP_059431	Q99418	CYH2_HUMAN	Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA.	215					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCTTTGTGGCCATGAACCGGG	0.637000														48			34		0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879241	53879241	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:53879241G>A	uc001sdn.2	-	4	1111	c.840C>T	c.(838-840)gaC>gaT	p.D280D	MAP3K12_uc001sdm.2_Silent_p.D247D	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	247	Protein kinase.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCACCACATCGTCGTAGGTGA	0.522000														93			93		0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31214502	31214502	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:31214502C>T	uc001bsc.2	-	2	334	c.243G>A	c.(241-243)ctG>ctA	p.L81L	MIR4420_uc021okj.1_5'Flank	NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	81					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CTACGCCGATCAGTAGGCTCA	0.612000														1			13		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73405699	73405699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:73405699C>T	uc001jrx.4	+	11	1636	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	CDH23_uc001jrw.4_Missense_Mutation_p.P416S|CDH23_uc001jry.3_Missense_Mutation_p.P416S|CDH23_uc001jrz.3_Missense_Mutation_p.P416S|CDH23_uc021psl.1_Missense_Mutation_p.P418S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	418	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTGGCCATCCCACTGGACTA	0.587000														3			34		0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74103169	74103169	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:74103169G>A	uc001jsz.2	-	2	664	c.514C>T	c.(514-516)Cac>Tac	p.H172Y	DNAJB12_uc001jta.2_Missense_Mutation_p.H172Y|DNAJB12_uc010qjv.1_Missense_Mutation_p.H172Y	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	138	J.				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						TTGTCTGGGTGGAATTTGAGG	0.537000														5			16		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192138	211192138	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:211192138C>T	uc001hib.2	-	5	1189	c.1019G>A	c.(1018-1020)gGg>gAg	p.G340E	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	340					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACTCTCTCTCCCCTCCAGTGG	0.438000														21			62		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4411248	4411249	+	Splice_Site	DNP	AG	GA	GA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr16:4411248_4411249AG>GA	uc002cwf.3	-	18	2131	c.1688_splice	c.e18-1	p.A563_splice	CORO7-PAM16_uc002cwe.3_Splice_Site|CORO7-PAM16_uc002cwg.4_Splice_Site_p.A343_splice|CORO7-PAM16_uc002cwh.4_Splice_Site_p.A563_splice|CORO7-PAM16_uc010uxh.2_Splice_Site_p.A545_splice|CORO7-PAM16_uc010uxi.2_Splice_Site_p.A478_splice|CORO7-PAM16_uc002cwi.1_Splice_Site_p.A343_splice|CORO7-PAM16_uc010uxj.1_Splice_Site	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		CGTCCTCACCAGCTGCAGAGGA	0.658000														14			13		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73829471	73829471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:73829471C>T	uc002sje.1	+	19	12382	c.12271C>T	c.(12271-12273)Cgc>Tgc	p.R4091C	ALMS1_uc002sjf.1_Missense_Mutation_p.R4049C|ALMS1_uc002sjh.1_Missense_Mutation_p.R3479C	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	4091					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCACCAGAATCGCATGTGCCC	0.562000														18			37		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072808	17072808	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:17072808C>T	uc002zlp.1	-	0	893	c.633G>A	c.(631-633)ggG>ggA	p.G211G		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	211					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCTCCAGTGTCCCCCCGGGCA	0.607000														67			41		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125390981	125390981	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:125390981C>T	uc011lyz.2	-	0	834	c.834G>A	c.(832-834)atG>atA	p.M278I		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CTGAAGCCACCATGTCCTGAT	0.502000														16			20		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189846	197189846	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:197189846C>T	uc002utm.1	-	5	782	c.599G>A	c.(598-600)gGg>gAg	p.G200E	HECW2_uc002utl.1_Intron	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	200	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAAGAACATCCCTTTCTTTAG	0.502000														100			18		0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107237704	107237704	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr12:107237704C>T	uc001tlw.3	+	5	1265	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	RIC8B_uc001tlx.3_Silent_p.I380I|RIC8B_uc001tly.3_Silent_p.I340I|RIC8B_uc001tlz.3_Non-coding_Transcript|RIC8B_uc009zur.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	380					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						ATCGAAACATCCGAAAATTTC	0.333000														18			13		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956430	42956430	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr3:42956430A>C	uc003cmk.2	+	3	1129	c.943A>C	c.(943-945)Aca>Cca	p.T315P	ZNF662_uc003cmi.2_Missense_Mutation_p.T289P|ZNF662_uc003cmj.2_Missense_Mutation_p.T181P	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TAGTCAGAACACAAGCCTTAC	0.453000														22			5		0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197898345	197898345	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:197898345G>A	uc001guk.1	+	4	1587	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	LHX9_uc001gui.1_Missense_Mutation_p.E375K|LHX9_uc021pgw.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	384					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GGACAGCCACGAATCCGGAAG	0.418000														102			20		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877295	24877295	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr14:24877295G>A	uc001wpf.4	+	2	737	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	140					DNA integration	integral to membrane	DNA binding	p.R140Q(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGTGGGGCGACTGCGCTGG	0.682000														20			43		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41591588	41591588	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:41591588C>T	uc003xok.3	-	3	214	c.130_splice	c.e3-1	p.N44_splice	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Splice_Site_p.N44_splice|ANK1_uc003xoj.3_Splice_Site_p.N44_splice|ANK1_uc003xol.3_Splice_Site_p.N44_splice|ANK1_uc003xom.3_Splice_Site_p.N77_splice	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	44	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCAACCCATTCTGTAAAGAGC	0.517000														66			47		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43788201	43788201	+	Silent	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr13:43788201C>T	uc001uza.4	-	16	2157	c.1857G>A	c.(1855-1857)caG>caA	p.Q619Q	ENOX1_uc001uzc.4_Silent_p.Q619Q|ENOX1_uc001uzb.4_Silent_p.Q619Q	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	619					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CCGTGAATTCCTGTTTGAACA	0.438000														44			17		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982099	7982099	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:7982099G>A	uc001mfv.1	-	1	1077	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	354	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAAATGCCTGGAACCTGACAC	0.507000														22			29		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152473196	152473196	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:152473196G>A	uc021zhb.1	-	131	24433	c.24210C>T	c.(24208-24210)aaC>aaT	p.N8070N	SYNE1_uc003qos.4_Silent_p.N2594N|SYNE1_uc003qot.4_Silent_p.N7999N|SYNE1_uc003qou.4_Silent_p.N8070N|SYNE1_uc011eez.2_Silent_p.N272N|SYNE1_uc003qoq.4_Silent_p.N272N|SYNE1_uc003qor.4_Silent_p.N970N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8070					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCAGTGCGGTTCTCCCTGG	0.557000										HNSCC(10;0.0054)				31			15		0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000														112			4		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289169	107289169	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:107289169C>T	uc011lvn.2	-	0	322	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCTGTTGACCCCATTGCAAAC	0.448000														47			51		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310674	24310674	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:24310674T>A	uc002nru.3	+	3	2006	c.1872T>A	c.(1870-1872)caT>caA	p.H624Q	ZNF254_uc010xrk.2_Missense_Mutation_p.H539Q	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	624					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAGAATTCATACTGGAGAGC	0.388000														42			20		0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224868683	224868683	+	Silent	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:224868683G>A	uc001hos.1	+	1	803	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA.	35					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		ATGAGTTAAGGACAGATTTTA	0.488000														30			63		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32492714	32492714	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr21:32492714G>A	uc002yow.1	-	28	5220	c.4748C>T	c.(4747-4749)cCc>cTc	p.P1583L	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.P1523L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1583					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTCCTGGAGGGGGCAAAGTC	0.557000														12			4		0	0	1	0	0
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr1:231131567delA	uc009xfl.1	+	3	539	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_uc001huh.3_Frame_Shift_Del_p.A170fs	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	Homo sapiens ARV1 homolog (S. cerevisiae) (ARV1), mRNA.	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383													---	82	---	---	9	---					
NBEAL1	65065	broad.mit.edu	37	2	204073989	204073989	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr2:204073989delT	uc002uzt.3	+	51	7975	c.7642delT	c.(7642-7644)tctfs	p.S2548fs	NBEAL1_uc021vvj.1_Frame_Shift_Del_p.S1182fs|NBEAL1_uc002uzu.3_Frame_Shift_Del_p.S43fs	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2548							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTGGCTATATCTTGGGAAGG	0.418													---	27	---	---	67	---					
FCHO2	115548	broad.mit.edu	37	5	72348292	72348292	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr5:72348292delA	uc003kcl.3	+	12	1247	c.1131delA	c.(1129-1131)ttafs	p.L377fs	FCHO2_uc011csl.2_Frame_Shift_Del_p.L344fs|FCHO2_uc010izb.3_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	377										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TGGATGAATTAAAAGTATCTA	0.338													---	4	---	---	2	---					
PCLO	27445	broad.mit.edu	37	7	82595413	82595413	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr7:82595413delC	uc003uhx.2	-	3	3980	c.3691delG	c.(3691-3693)gaafs	p.E1231fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.E1231fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1170					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTTTTTCTTCAGAACGT	0.393													---	174	---	---	8	---					
FLJ43860	389690	broad.mit.edu	37	8	142459777	142459778	+	Frame_Shift_Ins	INS	-	A	A	rs144781370	by1000genomes	TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr8:142459777_142459778insA	uc003ywi.2	-	19	2630_2631	c.2549_2550insT	c.(2548-2550)ctgfs	p.L850fs	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	850							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCAGACAGGCCAGCAGTGTGGT	0.678													---	2	---	---	5	---					
BAAT	570	broad.mit.edu	37	9	104133226	104133227	+	In_Frame_Ins	INS	-	GGAGAA	GGAGAA			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr9:104133226_104133227insGGAGAA	uc010mtd.3	-	1	569_570	c.460_461insTTCTCC	c.(460-462)cct>cTTCTCCct	p.153_154insLL	BAAT_uc004bbd.4_In_Frame_Ins_p.153_154insLL	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	153					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTCACCTGGAGGGAGAAAGAGA	0.436													---	42	---	---	17	---					
UPF2	26019	broad.mit.edu	37	10	12046612	12046614	+	In_Frame_Del	DEL	AAA	-	-			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr10:12046612_12046614delAAA	uc001ila.3	-	3	1893_1895	c.1419_1421delTTT	c.(1417-1422)gatttg>gag	p.473_474DL>E	UPF2_uc001ilb.3_In_Frame_Del_p.473_474DL>E|UPF2_uc001ilc.3_In_Frame_Del_p.473_474DL>E|UPF2_uc009xiz.2_In_Frame_Del_p.473_474DL>E	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	473					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AAAAGCCTTCAAATCAATGAGGT	0.355													---	8	---	---	26	---					
CCDC88B	283234	broad.mit.edu	37	11	64112135	64112136	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr11:64112135_64112136insT	uc001nzy.3	+	13	2171_2172	c.2122_2123insT	c.(2122-2124)gtcfs	p.V708fs	CCDC88B_uc009ypo.2_Frame_Shift_Ins_p.V705fs|CCDC88B_uc001nzz.1_Frame_Shift_Ins_p.V357fs	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	708					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTCTTGAGGTCCAGGTCTGG	0.624													---	20	---	---	10	---					
SBNO2	22904	broad.mit.edu	37	19	1110855	1110855	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:1110855delG	uc002lrk.4	-	25	3155	c.2917delC	c.(2917-2919)ctgfs	p.L973fs	SBNO2_uc002lrj.4_Frame_Shift_Del_p.L916fs|SBNO2_uc010dse.3_Frame_Shift_Del_p.L956fs	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	973					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCCCCAGGATGCGGTTC	0.587													---	48	---	---	20	---					
PLIN4	729359	broad.mit.edu	37	19	4517676	4517676	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:4517676delA	uc002mar.1	-	0	41	c.41delT	c.(40-42)ttcfs	p.F14fs		NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	14						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGCAGAGCTGAAGCCAGGCAG	0.692													---	4	---	---	2	---					
GAPDHS	26330	broad.mit.edu	37	19	36029298	36029309	+	Splice_Site	DEL	AATACATGGTCA	-	-			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr19:36029298_36029309delAATACATGGTCA	uc002oaf.1	+	3	458	c.342_splice	c.e3+1	p.M114_splice		NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	114					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	ATTGACCCGGAATACATGGTCAGTAGCTGGCA	0.571													---	13	---	---	7	---					
abParts	0	broad.mit.edu	37	22	22724183	22724183	+	RNA	DEL	C	-	-			TCGA-D3-A51G-06A-11D-A25O-08	TCGA-D3-A51G-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B	5B34AC89-1869-4837-BB7F-77495A9411A2	g.chr22:22724183delC	uc021wml.1	+	44		c.5044delC								Parts of antibodies, mostly variable regions.																		GACTCAGGAGCCCTCACTGAC	0.507													---	26	---	---	16	---