Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TKTL2	84076	broad.mit.edu	37	4	164394865	164394865	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:164394865G>A	ENST00000280605.3	-	1	182	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	8						cytoplasm	metal ion binding|transketolase activity			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)				TTCACGTCGGGCTTGGCGTCG	0.637000													3	29					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142229061	142229061	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:142229061C>A	ENST00000519067.1	-	4	828	c.525G>T	c.(523-525)tgG>tgT	p.W175C	SLC45A4_ENST00000024061.3_Missense_Mutation_p.W175C|SLC45A4_ENST00000517878.1_Missense_Mutation_p.W226C|SLC45A4_ENST00000433583.2_Missense_Mutation_p.W168C			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	226					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTCCGGAACCAGCTGCCCA	0.652000													9	97					2.74318e-10	3.01503e-10	1	1	0
MAP3K5	4217	broad.mit.edu	37	6	136913701	136913701	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:136913701C>G	ENST00000359015.4	-	22	3290	c.2930G>C	c.(2929-2931)aGc>aCc	p.S977T	MAP3K5_ENST00000355845.4_Missense_Mutation_p.S224T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	977					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|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.S977I(1)		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)		ACTGCTGCTGCTGGTGTCCTC	0.478000													5	70					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541713	10541713	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:10541713C>T	ENST00000583535.1	-	27	3463	c.3376G>A	c.(3376-3378)Gag>Aag	p.E1126K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1126K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1126					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP 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						GTGGCCCTCTCCGCCTCTATC	0.657000													7	29					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37634810	37634810	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:37634810G>A	ENST00000252011.3	+	12	1066	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	DHX35_ENST00000373325.2_Missense_Mutation_p.A345T|DHX35_ENST00000373323.4_Missense_Mutation_p.A314T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	345	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CACCAATGTGGCAGAAACCTC	0.408000													25	423					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10659377	10659377	+	Silent	SNP	A	A	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:10659377A>C	ENST00000356607.4	+	4	332	c.252A>C	c.(250-252)acA>acC	p.T84T	PEX14_ENST00000538836.1_Silent_p.T20T	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	84					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCAGCCACACAGGTGGTTC	0.557000													12	90					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574652	210574652	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:210574652C>T	ENST00000360351.4	+	12	5253	c.4747C>T	c.(4747-4749)Cgc>Tgc	p.R1583C	MAP2_ENST00000199940.6_Missense_Mutation_p.R284C|MAP2_ENST00000392194.1_Missense_Mutation_p.R227C|MAP2_ENST00000361559.4_Missense_Mutation_p.R227C|MAP2_ENST00000447185.1_Missense_Mutation_p.R1579C|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1583					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAGCCAATTCGCAGAGCAGG	0.498000													12	58					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25368473	25368473	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:25368473T>C	ENST00000256078.4	-	5	535	c.472A>G	c.(472-474)Aca>Gca	p.T158A	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	158					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|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTCACCAATGTATAAAAAGCA	0.353000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	83					0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31822041	31822041	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:31822041G>A	ENST00000343307.4	+	6	546	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	133					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTTCTGTGAAGAAGAGACAAG	0.333000													3	34					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49312494	49312494	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49312494G>C	ENST00000266984.5	+	6	1061	c.834G>C	c.(832-834)aaG>aaC	p.K278N	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K278N			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	278										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CAAAAGGCAAGATCATGATAC	0.433000													5	68					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106464625	106464625	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:106464625G>A	ENST00000261402.2	-	6	2138	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	253	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F253F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CGAAACCATCGAAGGGCATTG	0.547000													7	53					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43985982	43985982	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:43985982C>T	ENST00000262726.7	-	24	3257	c.3004G>A	c.(3004-3006)Gaa>Aaa	p.E1002K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E850K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1002					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)				AGCTCCCCTTCGGTAAGAGAA	0.408000													9	104					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344521	53344521	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:53344521C>A	ENST00000595646.1	-	4	1146	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Silent_p.L289L|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.L289L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TATGTTTTGCCAGATATGAAT	0.383000													11	157					3.86212e-05	4.12591e-05	1	1	0
ZNF792	126375	broad.mit.edu	37	19	35449519	35449519	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:35449519T>C	ENST00000404801.1	-	4	1626	c.1240A>G	c.(1240-1242)Aga>Gga	p.R414G	ZNF792_ENST00000605484.1_Missense_Mutation_p.R347G	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGTGAACTCTCCAATGTTTA	0.448000													8	62					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31164450	31164450	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:31164450T>C	ENST00000357033.4	-	76	11085	c.10879A>G	c.(10879-10881)Atg>Gtg	p.M3627V	DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000343523.2_Missense_Mutation_p.M1057V|DMD_ENST00000361471.4_Missense_Mutation_p.M546V|DMD_ENST00000541735.1_Missense_Mutation_p.M1057V|DMD_ENST00000378702.4_Missense_Mutation_p.M559V|DMD_ENST00000378680.2_Missense_Mutation_p.M449V|DMD_ENST00000378707.3_Missense_Mutation_p.M1167V|DMD_ENST00000378723.3_Missense_Mutation_p.M559V|DMD_ENST00000378677.2_Missense_Mutation_p.M3623V|DMD_ENST00000359836.1_Missense_Mutation_p.M1154V|DMD_ENST00000474231.1_Missense_Mutation_p.M1167V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3627					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)				CGGAGCAGCATAGGCTGACTG	0.498000													5	58					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151884562	151884562	+	Splice_Site	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:151884562C>A	ENST00000355193.2	-	33	5012		c.e33-1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		ATTTTTATCCCTGGGAAAAAA	0.313000													11	93					4.68919e-08	5.12617e-08	1	1	0
KIAA0922	23240	broad.mit.edu	37	4	154517420	154517420	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:154517420C>T	ENST00000409959.3	+	20	2055	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S585F|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S668F	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	668						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGTACGCATTCTGAGGAATCC	0.418000													11	157					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178414790	178414790	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:178414790C>T	ENST00000448150.3	+	9	2384	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D	RASAL2_ENST00000367649.3_Silent_p.D540D|RASAL2_ENST00000462775.1_Silent_p.D392D	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	392					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATCTTCATGACGCACTGGGTA	0.388000													5	71					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105172995	105172995	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:105172995G>A	ENST00000369797.3	+	9	1195	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	367	S1 motif 4.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGGAGCAGTGCTGGATGATG	0.572000													9	63					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75702243	75702243	+	Silent	SNP	C	C	T	rs142678572	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:75702243C>T	ENST00000394947.3	-	8	1565	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	SIN3A_ENST00000360439.4_Silent_p.P417P|SIN3A_ENST00000394949.4_Silent_p.P417P	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	417	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGGGCCTCTGCGGCTTGTTGT	0.498000													10	86					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202342454	202342454	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:202342454G>C	ENST00000194530.3	+	8	1026	c.661G>C	c.(661-663)Gat>Cat	p.D221H	STRADB_ENST00000392249.2_Missense_Mutation_p.D221H	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	221	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GGCTGTGTATGATTTCCCACA	0.522000													17	110					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396305	139396305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:139396305G>A	ENST00000277541.6	-	30	5608	c.5533C>T	c.(5533-5535)Cag>Tag	p.Q1845*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1845					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCTGCTGAGTCCACTGC	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	43					0	0	1	0	0
ATP1B1	481	broad.mit.edu	37	1	169096464	169096464	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:169096464G>A	ENST00000367816.1	+	5	914	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	ATP1B1_ENST00000494797.1_3'UTR|ATP1B1_ENST00000367813.3_Missense_Mutation_p.V121M|ATP1B1_ENST00000367815.3_Missense_Mutation_p.V129M|ATP1B1_ENST00000499679.3_Missense_Mutation_p.V73M			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	129					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)					ATTTTTAGATGTGCCCAGTGA	0.393000													6	69					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35280555	35280555	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:35280555T>C	ENST00000408931.3	-	5	1275	c.749A>G	c.(748-750)gAa>gGa	p.E250G		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	250						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGTTCTAAATTCTTCAGACTT	0.398000													5	46					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31665334	31665334	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:31665334G>A	ENST00000295770.2	+	11	1917	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	570					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGTAGTCCTGGCCTCATACAA	0.373000													8	90					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68118400	68118400	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:68118400C>T	ENST00000380035.2	+	2	292	c.234C>T	c.(232-234)ggC>ggT	p.G78G	SKOR1_ENST00000554054.1_Silent_p.G50G|SKOR1_ENST00000389002.1_Silent_p.G69G|SKOR1_ENST00000554240.1_Silent_p.G39G|SKOR1_ENST00000341418.5_Silent_p.G264G			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	78					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ACCAGGTGGGCGAGACGTCGC	0.652000													6	46					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108246120	108246120	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:108246120C>T	ENST00000369002.4	-	3	420	c.241G>A	c.(241-243)Gca>Aca	p.A81T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	81					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCCCATCCTGCAAGCAGAACT	0.348000													8	66					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228462329	228462329	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:228462329G>A	ENST00000570156.2	+	24	6939	c.6865G>A	c.(6865-6867)Ggc>Agc	p.G2289S	OBSCN_ENST00000284548.11_Missense_Mutation_p.G1914S|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000422127.1_Missense_Mutation_p.G1914S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.G761S|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1274	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGAGGGCGGCGAGGCCAC	0.632000													3	14					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21174109	21174109	+	Silent	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:21174109A>G	ENST00000255882.6	-	6	695	c.609T>C	c.(607-609)tcT>tcC	p.S203S	PI4KA_ENST00000572273.1_Silent_p.S145S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	145					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTGAGAGGAGAGACTCTTCCA	0.478000													7	161					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58572993	58572993	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58572993G>A	ENST00000401053.4	+	2	118	c.115G>A	c.(115-117)Gag>Aag	p.E39K	ZNF135_ENST00000359978.6_Missense_Mutation_p.E39K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E27K|ZNF135_ENST00000439855.2_Missense_Mutation_p.E27K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E27K|ZNF135_ENST00000506786.1_5'UTR	NM_001164529.1|NM_007134.1	NP_001158001.1|NP_009065.1	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	27					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCCAGGAGGAGTGGGGGCA	0.587000													5	98					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130374062	130374062	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:130374062A>G	ENST00000529410.1	+	9	987	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S145G|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S170G|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S145G|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S170G|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S145G			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	170					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCCTAAGTGTAGTCGGAAGAA	0.418000													7	30					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46542332	46542332	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:46542332C>G	ENST00000296142.3	+	2	1214	c.642C>G	c.(640-642)ttC>ttG	p.F214L		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	214					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TAAGCATTTTCTGCTGTTGTG	0.408000													8	103					0	0	1	0	0
MRPS24	64951	broad.mit.edu	37	7	43906549	43906549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:43906549G>A	ENST00000317534.5	-	4	314	c.253C>T	c.(253-255)Cga>Tga	p.R85*	MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	85					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCCACCGTTCGCTCTGCGGCA	0.557000													9	80					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141556	29141556	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:29141556C>G	ENST00000377167.2	+	1	246	c.144C>G	c.(142-144)atC>atG	p.I48M		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATCATCATCCTGTCATACG	0.443000													9	164					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174587	63174587	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:63174587G>T	ENST00000322893.7	-	11	2874	c.2606C>A	c.(2605-2607)aCa>aAa	p.T869K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	869					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)		GTCACTTTTTGTAATTCCACT	0.498000													7	101					0.00307968	0.00314674	1	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99758482	99758482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:99758482G>A	ENST00000423751.1	-	3	481	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	GAL3ST4_ENST00000360039.4_Missense_Mutation_p.S177L|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S177L|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S115L|GAL3ST4_ENST00000411994.1_Nonsense_Mutation_p.Q76*			Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	234					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGGAAGGCTGATGAGGTGGA	0.552000													6	85					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67262398	67262398	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:67262398C>T	ENST00000356404.3	-	18	2886	c.2661G>A	c.(2659-2661)gcG>gcA	p.A887A	PITPNM1_ENST00000534749.1_Silent_p.A887A|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.A886A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	887					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCTCGCATTCCGCCAGCTGTG	0.677000													13	60					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925395	25925395	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:25925395T>A	ENST00000356865.6	-	20	3850	c.3739A>T	c.(3739-3741)Att>Ttt	p.I1247F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1247					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)		GCATTGTAAATCAAAGCCACG	0.478000													10	99					0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180666085	180666085	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:180666085G>A	ENST00000512805.1	-	5	1026	c.618C>T	c.(616-618)ctC>ctT	p.L206L	GNB2L1_ENST00000511566.1_Silent_p.L206L|GNB2L1_ENST00000511900.1_Silent_p.L158L|GNB2L1_ENST00000376817.4_Silent_p.L162L|GNB2L1_ENST00000504726.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	206					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CAGAAGCACAGAGGGATCCAT	0.517000													7	141					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174448	63174448	+	Silent	SNP	G	G	A	rs138093802		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:63174448G>A	ENST00000322893.7	-	11	3013	c.2745C>T	c.(2743-2745)caC>caT	p.H915H	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	915	CAD (involved in subunit assembly) (By similarity).				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)		CTTTGAGTTCGTGTTTGACTT	0.512000													13	142					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129910535	129910535	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:129910535C>G	ENST00000222481.4	+	4	346	c.291C>G	c.(289-291)gtC>gtG	p.V97V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	97					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TATCTTAGGTCCTGTTGGACA	0.423000													10	79					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113111552	113111552	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:113111552G>A	ENST00000401611.2	+	16	1882	c.1882G>A	c.(1882-1884)Gat>Aat	p.D628N	NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000533760.1_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	353	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTCTCCACCAGATAGTGAGTA	0.443000													11	148					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55561055	55561055	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:55561055C>T	ENST00000294383.6	-	51	6075	c.6076G>A	c.(6076-6078)Gat>Aat	p.D2026N	USP24_ENST00000407756.1_Missense_Mutation_p.D1866N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2026					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CGGCGCACATCAGTGTATGGG	0.388000													3	26					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792719	131792719	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:131792719A>G	ENST00000286355.5	-	18	5765	c.3673T>C	c.(3673-3675)Tac>Cac	p.Y1225H	ADCY8_ENST00000377928.3_Missense_Mutation_p.Y1094H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1225					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGCCGGTTGTAATGACCCTTG	0.517000										HNSCC(32;0.087)			6	70					0	0	1	0	0
STAG3L3	442578	broad.mit.edu	37	7	72470019	72470019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:72470019C>T	ENST00000308103.6	-	6	705	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	STAG3L3_ENST00000569650.1_Missense_Mutation_p.V108I|STAG3L3_ENST00000436857.1_Missense_Mutation_p.V108I|STAG3L3_ENST00000426587.1_Missense_Mutation_p.V54I|STAG3L3_ENST00000448173.1_Missense_Mutation_p.V108I			P0CL85	ST3L3_HUMAN		108						nucleus	binding			breast(1)|lung(1)|stomach(1)	3		Lung NSC(55;0.197)				AGTAATCTGACGGCCTCCACT	0.507000													10	149					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804666	43804666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:43804666C>T	ENST00000243924.3	+	2	291	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	82	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TATCTTGATCCGGTGCGCCAT	0.507000													10	84					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58587630	58587630	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:58587630C>T	ENST00000348616.4	+	18	2644	c.2344C>T	c.(2344-2346)Cac>Tac	p.H782Y	CDH26_ENST00000350849.6_Missense_Mutation_p.H115Y|CDH26_ENST00000244049.3_Missense_Mutation_p.H74Y|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CTACCTACCTCACGTCTACAG	0.552000													5	65					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126683151	126683151	+	Missense_Mutation	SNP	C	C	T	rs76203768		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:126683151C>T	ENST00000309035.6	-	5	2417	c.2287G>A	c.(2287-2289)Gtg>Atg	p.V763M	CTBP2_ENST00000531469.1_Missense_Mutation_p.V223M|CTBP2_ENST00000411419.2_Missense_Mutation_p.V223M|CTBP2_ENST00000337195.5_Missense_Mutation_p.V223M|CTBP2_ENST00000334808.6_Missense_Mutation_p.V291M|CTBP2_ENST00000494626.2_Missense_Mutation_p.V223M	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	223					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ACCCTCTGCACGCCCAGGGAC	0.547000													9	63					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113714796	113714796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:113714796C>T	ENST00000550785.1	+	12	1400	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	TPCN1_ENST00000335509.6_Nonsense_Mutation_p.R339*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.R411*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.R271*	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	339						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ACTGCACAAGCGAACCGCTAT	0.567000													18	262					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35546558	35546558	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35546558G>A	ENST00000455600.1	+	2	609	c.40G>A	c.(40-42)Gtt>Att	p.V14I	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	14						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)			GACCCTCATCGTTCATCACAT	0.582000													9	118					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177650751	177650751	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:177650751G>C	ENST00000280193.2	-	2	712	c.297C>G	c.(295-297)ctC>ctG	p.L99L		NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	99					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCCTTGAGTTGAGGTTGGCCT	0.373000													6	67					0	0	1	0	0
SELO	83642	broad.mit.edu	37	22	50647025	50647025	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:50647025C>T	ENST00000380903.2	+	3	877	c.819C>T	c.(817-819)agC>agT	p.S273S	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					CAGGCCCCAGCGTGGGGAGGA	0.567000													7	69					0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50536932	50536932	+	Missense_Mutation	SNP	C	C	T	rs146511812		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:50536932C>T	ENST00000317551.6	-	3	483	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	CERS5_ENST00000422340.2_Missense_Mutation_p.R62Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	120					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTGGATTTTTCGGACATTCCA	0.493000													16	230					0	0	1	0	0
ELK3	2004	broad.mit.edu	37	12	96641121	96641121	+	Missense_Mutation	SNP	C	C	T	rs118124881	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:96641121C>T	ENST00000228741.3	+	3	937	c.611C>T	c.(610-612)aCg>aTg	p.T204M	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	204					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTGCCTTCCACGTCAGAGGCT	0.587000													10	100					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41019061	41019061	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:41019061C>T	ENST00000399564.4	-	25	2951	c.2501G>A	c.(2500-2502)cGg>cAg	p.R834Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.R389Q	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGCAGCCTCCGAATATTCTC	0.458000													7	41					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625900	73625900	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:73625900G>C	ENST00000317905.5	-	15	1994	c.1835C>G	c.(1834-1836)tCc>tGc	p.S612C	RECQL5_ENST00000423245.2_Missense_Mutation_p.S585C|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	612					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCATCCTTGGAGGCTCTGTG	0.622000								Other identified genes with known or suspected DNA repair function					5	58					0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114676954	114676954	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:114676954G>A	ENST00000374279.3	+	2	618	c.168G>A	c.(166-168)ctG>ctA	p.L56L	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	56					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TCTCTCTTCTGAAACCACTGA	0.368000													5	94					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202141631	202141631	+	Missense_Mutation	SNP	C	C	T	rs17860424		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:202141631C>T	ENST00000358485.4	+	7	1115	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CASP8_ENST00000432109.2_Missense_Mutation_p.R248W|CASP8_ENST00000392258.3_Missense_Mutation_p.T226M|CASP8_ENST00000392266.3_Missense_Mutation_p.T211M|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R233W|CASP8_ENST00000264275.5_Missense_Mutation_p.R265W|CASP8_ENST00000392259.2_Missense_Mutation_p.T226M	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	248					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGCAAAAGCACGGGAGAAAGT	0.393000										HNSCC(4;0.00038)			6	43					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958711	54958711	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:54958711T>C	ENST00000273286.5	-	2	701	c.539A>G	c.(538-540)aAc>aGc	p.N180S	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.N104S|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	180	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTTCCAGAGGTTGTCCTTGAG	0.463000													6	127					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142588	5142588	+	RNA	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5142588T>C	ENST00000498233.1	-	0	810																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGTGAAATGTCTGTGGCTCC	0.423000													7	61					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	51					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562761	32562761	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:32562761A>C	ENST00000345122.3	+	2	3201	c.2886A>C	c.(2884-2886)gaA>gaC	p.E962D	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E962D|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	962					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAAAGTGAAGATGTTTTTC	0.358000													10	120					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103814225	103814225	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:103814225T>A	ENST00000302251.5	-	5	1160	c.709A>T	c.(709-711)Acc>Tcc	p.T237S	PDGFD_ENST00000393158.2_Missense_Mutation_p.T243S	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	243					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TACCGAGGGGTGTCCAGATAC	0.408000													5	36					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103138545	103138545	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:103138545T>A	ENST00000424685.2	-	54	8981	c.8822A>T	c.(8821-8823)gAt>gTt	p.D2941V	RELN_ENST00000343529.5_Missense_Mutation_p.D2941V|RELN_ENST00000428762.1_Missense_Mutation_p.D2941V|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	2941					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)		AAGATCCAAATCTTGTGTAAC	0.423000													10	90					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118530499	118530499	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:118530499G>A	ENST00000336338.5	-	40	5692	c.5627C>T	c.(5626-5628)aCa>aTa	p.T1876I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1876						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGAGGATGCTGTGTGTCTATG	0.388000													5	42					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16103674	16103674	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:16103674C>G	ENST00000399408.2	+	3	442	c.267C>G	c.(265-267)ctC>ctG	p.L89L	ABCC1_ENST00000345148.5_Silent_p.L89L|ABCC1_ENST00000351154.5_Silent_p.L89L|ABCC1_ENST00000399410.3_Silent_p.L89L|ABCC1_ENST00000346370.5_Silent_p.L89L|ABCC1_ENST00000349029.5_Silent_p.L89L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	89					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L89L(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGCAGACCTCTTCTACTCTT	0.552000													20	144					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698774	49698774	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:49698774A>G	ENST00000296452.4	+	6	9610	c.9496A>G	c.(9496-9498)Agc>Ggc	p.S3166G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3166					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGTGATCGCCAGCCCCGTTGT	0.627000													5	52					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82843897	82843897	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:82843897G>A	ENST00000265077.3	+	10	10052	c.9487G>A	c.(9487-9489)Gag>Aag	p.E3163K	VCAN_ENST00000342785.4_Missense_Mutation_p.E1409K|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E2176K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Missense_Mutation_p.E1361K|VCAN_ENST00000502527.2_Missense_Mutation_p.E422K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3163	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCACTTTGTGAGCAAGGTAA	0.388000													15	53					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030595	32030595	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:32030595G>C	ENST00000360311.4	+	2	573	c.24G>C	c.(22-24)caG>caC	p.Q8H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGCAGCTCAGAAGAGGAAAG	0.468000													5	84					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170428478	170428478	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:170428478A>C	ENST00000453153.2	-	2	408	c.62T>G	c.(61-63)aTt>aGt	p.I21S	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I21S	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	21					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAATGGACAAATAGCTCTTAG	0.358000													8	52					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152826378	152826378	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152826378C>T	ENST00000367255.5	-	9	1337	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	SYNE1_ENST00000413186.2_Missense_Mutation_p.A246T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A246T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A246T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A253T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A246T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A253T|SYNE1_ENST00000466159.2_Missense_Mutation_p.A246T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A253T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	246	Actin-binding.|CH 2.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A246T(2)		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)		TCTGTTTCGGCGATAGTGAAA	0.433000										HNSCC(10;0.0054)			12	57					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30485798	30485798	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:30485798G>A	ENST00000222823.4	-	9	2937	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	804					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.L804L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGCCAGGGCGAGATACTTCC	0.527000													10	152					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49312668	49312668	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49312668G>C	ENST00000266984.5	+	6	1235	c.1008G>C	c.(1006-1008)ctG>ctC	p.L336L	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L336L			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	336										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCAAGGCCCTGAGAAAGATTG	0.488000													7	43					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155735586	155735586	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:155735586G>A	ENST00000437809.1	-	21	3800	c.3678C>T	c.(3676-3678)caC>caT	p.H1226H	GON4L_ENST00000368331.1_Silent_p.H1226H|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.H1226H|GON4L_ENST00000271883.5_Silent_p.H1226H			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1226					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)					CCACATTCACGTGGGCCTTAT	0.493000													6	101					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127670419	127670419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:127670419C>T	ENST00000508053.1	-	37	5065	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E	FBN2_ENST00000262464.4_Missense_Mutation_p.G1364E|FBN2_ENST00000507835.1_Missense_Mutation_p.G214E|FBN2_ENST00000508989.1_Missense_Mutation_p.G1331E			P35556	FBN2_HUMAN	fibrillin 2	1364	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCTGTACATCCTGTGGTCCC	0.428000													10	88					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636025	73636025	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:73636025G>C	ENST00000377687.4	+	2	824	c.288G>C	c.(286-288)ctG>ctC	p.L96L	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Silent_p.L5L	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	96					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGAAGTATCTGACACCTCAGC	0.428000													12	128					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73455550	73455550	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:73455550C>T	ENST00000252034.7	+	5	600	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ELN_ENST00000458204.1_Silent_p.P57P|ELN_ENST00000358929.4_Silent_p.P67P|ELN_ENST00000380584.4_Silent_p.P67P|ELN_ENST00000380575.4_Silent_p.P57P|ELN_ENST00000429192.1_Silent_p.P67P|ELN_ENST00000380576.5_Silent_p.P67P|ELN_ENST00000445912.1_Silent_p.P67P|ELN_ENST00000357036.5_Silent_p.P67P|ELN_ENST00000380553.4_Silent_p.P67P|ELN_ENST00000380562.4_Silent_p.P67P|ELN_ENST00000320399.6_Silent_p.P67P|ELN_ENST00000320492.7_Intron|ELN_ENST00000414324.1_Silent_p.P57P	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	67					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)	CCACAGTTCCCGGAGGGCTTG	0.587000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						24	260					0	0	1	0	0
CMTM2	146225	broad.mit.edu	37	16	66613547	66613547	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:66613547C>T	ENST00000268595.2	+	1	188	c.37C>T	c.(37-39)Cca>Tca	p.P13S	CMTM2_ENST00000379486.2_Missense_Mutation_p.P13S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	13					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CAAGCCAGAGCCAGCACCAGC	0.587000													6	70					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160968692	160968692	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:160968692G>C	ENST00000460469.1	+	15	1961	c.1506G>C	c.(1504-1506)ctG>ctC	p.L502L	NMD3_ENST00000472947.1_Intron|NMD3_ENST00000351193.2_Silent_p.L502L			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	502	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CATCAATGCTGACATAATGAG	0.433000													5	91					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781826	46781826	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:46781826G>T	ENST00000394809.4	-	1	395	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	94					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCAGCTCCAGGACCTCGGGC	0.716000													3	33					0.115264	0.116025	1	1	0
ALG13	79868	broad.mit.edu	37	X	110924449	110924449	+	Translation_Start_Site	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:110924449G>T	ENST00000394780.3	+	1	15	c.3G>T	c.(1-3)atG>atT	p.M1I	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Start_Codon_SNP_p.M1I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CCCGCGCCATGAAGTGCGTGT	0.602000													27	232					9.39395e-14	1.0381e-13	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518310	108518310	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:108518310G>T	ENST00000375915.2	-	1	773	c.635C>A	c.(634-636)cCc>cAc	p.P212H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	212						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGCGGAGTGGGATGCTTGCT	0.587000													7	120					0.00307968	0.00314674	1	1	0
WDR35	57539	broad.mit.edu	37	2	20138032	20138032	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:20138032C>T	ENST00000345530.3	-	19	2205	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	WDR35_ENST00000416055.2_Missense_Mutation_p.R262Q|WDR35_ENST00000281405.4_Missense_Mutation_p.R686Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	697										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACCAAAGTCGGGGGTGTGG	0.443000													8	81					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62543753	62543753	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:62543753G>A	ENST00000262435.9	-	17	2223	c.2036C>T	c.(2035-2037)tCt>tTt	p.S679F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	679	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGGCACTCGAGAGGATCCTGT	0.547000													5	60					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102979153	102979153	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:102979153G>T	ENST00000372617.4	-	4	767	c.347C>A	c.(346-348)tCt>tAt	p.S116Y		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	116						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGGTCCAGAGAGTCATCAGG	0.547000													10	146					0.000442599	0.000462304	1	1	0
NGDN	25983	broad.mit.edu	37	14	23945268	23945268	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:23945268G>A	ENST00000397154.3	+	7	464	c.451G>A	c.(451-453)Gca>Aca	p.A151T	NGDN_ENST00000408901.3_Missense_Mutation_p.A151T			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	151	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGAAGATGAAGCAGAAGATGA	0.413000													12	68					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1652541	1652541	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:1652541G>A	ENST00000426508.2	-	4	562	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	67										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCCAGCACAGGGAAGCAACC	0.602000													4	43					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37016183	37016183	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:37016183G>C	ENST00000282516.8	+	23	5186	c.4687G>C	c.(4687-4689)Gaa>Caa	p.E1563Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1563Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1563					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCACTGTTTGAAAATTTTGT	0.388000													6	71					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32663245	32663245	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:32663245A>G	ENST00000357033.4	-	10	1191	c.985T>C	c.(985-987)Tca>Cca	p.S329P	DMD_ENST00000288447.4_Missense_Mutation_p.S321P|DMD_ENST00000378677.2_Missense_Mutation_p.S325P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	329					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)				CTGCCAAATGACTTGTCTTCA	0.378000													7	154					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301152	110301152	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:110301152C>T	ENST00000369805.3	-	7	827	c.598G>A	c.(598-600)Gag>Aag	p.E200K	EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.E199K|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E199K	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	199	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TTACTGTGCTCTAGGGTCCTC	0.577000													7	75					0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74758074	74758074	+	Missense_Mutation	SNP	G	G	A	rs142306682		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74758074G>A	ENST00000258080.3	+	3	1378	c.748G>A	c.(748-750)Gat>Aat	p.D250N	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	250	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ACGCTCAGCTGATGTCCGGCA	0.552000													18	291					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449452	179449452	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:179449452C>A	ENST00000589042.1	-	310	65140	c.64916G>T	c.(64915-64917)cGa>cTa	p.R21639L	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12574L|TTN_ENST00000342992.6_Missense_Mutation_p.R19071L|TTN_ENST00000342175.6_Missense_Mutation_p.R12766L|TTN_ENST00000359218.5_Missense_Mutation_p.R12699L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19998L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19998	Fibronectin type-III 57.						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)			AATGCCAAATCGGTTTTCAGC	0.468000													8	210					0.000442599	0.000462304	1	1	0
PRPS1	5631	broad.mit.edu	37	X	106885676	106885676	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106885676G>T	ENST00000372435.4	+	4	608	c.486G>T	c.(484-486)tgG>tgT	p.W162C	PRPS1_ENST00000543248.1_Missense_Mutation_p.W162C|PRPS1_ENST00000372428.4_Missense_Mutation_p.W95C|PRPS1_ENST00000372418.1_Missense_Mutation_p.W62C	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	162					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCTCTGAGTGGAGGAACTGCA	0.433000													11	116					3.86212e-05	4.12591e-05	1	1	0
GNL3L	54552	broad.mit.edu	37	X	54574764	54574764	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:54574764C>T	ENST00000336470.4	+	9	872	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	GNL3L_ENST00000360845.2_Missense_Mutation_p.R245C	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	245					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GAACTATTGCCGCCTTGGTGA	0.542000													4	23					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336687	126336687	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:126336687G>A	ENST00000394329.3	+	5	6582	c.6569G>A	c.(6568-6570)cGc>cAc	p.R2190H	FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2190	Cadherin 21.				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						GGACAGGTTCGCTATGGCATT	0.413000													16	148					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270399	53270399	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:53270399A>G	ENST00000338230.3	-	3	877	c.610T>C	c.(610-612)Tac>Cac	p.Y204H		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	204					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)		CATGTAAGGTATTGCTTGTGA	0.398000													13	238					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46181250	46181250	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:46181250G>A	ENST00000590918.1	+	11	1110	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	GIPR_ENST00000593127.1_3'UTR|GIPR_ENST00000304207.8_Silent_p.L301L|GIPR_ENST00000263281.3_Silent_p.L337L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	337				L -> V (in Ref. 2; AAB35419).	generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATTACCGGCTGAGGTGAGGGC	0.607000													4	63					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084402	107084402	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:107084402G>A	ENST00000262843.6	+	2	1055	c.507G>A	c.(505-507)acG>acA	p.T169T	MID2_ENST00000443968.2_Silent_p.T169T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	169						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCGGGCCACGCACCCCAACA	0.552000													7	59					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54418851	54418851	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:54418851C>T	ENST00000245451.4	-	3	483	c.90G>A	c.(88-90)acG>acA	p.T30T	BMP4_ENST00000417573.1_Silent_p.T30T|BMP4_ENST00000558984.1_Silent_p.T30T|BMP4_ENST00000559087.1_Silent_p.T30T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	30					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TTTTCTTCCCCGTCTCAGGTA	0.567000													9	74					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74951881	74951881	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:74951881C>T	ENST00000262144.6	-	11	1042	c.912G>A	c.(910-912)acG>acA	p.T304T		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	304										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCGGGACCACGTCACCAGTT	0.463000													9	95					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36087862	36087862	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:36087862C>G	ENST00000377966.3	+	9	1375	c.809C>G	c.(808-810)tCt>tGt	p.S270C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	270	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGCTCACAATCTGTTCACCCT	0.458000													8	52					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44409183	44409183	+	Silent	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:44409183A>G	ENST00000342649.4	+	5	982	c.555A>G	c.(553-555)agA>agG	p.R185R	TCAIM_ENST00000417237.1_Silent_p.R185R	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial									p.R185R(1)									AAGTCTCGAGAGTGGAAACAA	0.373000													5	33					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104057410	104057410	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:104057410C>T	ENST00000265148.3	-	40	6499	c.6410G>A	c.(6409-6411)aGa>aAa	p.R2137K	CENPE_ENST00000380026.3_Missense_Mutation_p.R2016K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2137	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTTTAACTCTCATTGAAAG	0.363000													9	97					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744135	140744135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140744135C>T	ENST00000518069.1	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAACCCGCGAAGCGGCAG	0.607000													8	91					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109690843	109690843	+	Silent	SNP	C	C	T	rs143646728	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:109690843C>T	ENST00000277225.5	+	3	4939	c.4650C>T	c.(4648-4650)caC>caT	p.H1550H	ZNF462_ENST00000457913.1_Silent_p.H1550H|ZNF462_ENST00000441147.2_Silent_p.H395H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1550					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACTTTGTGCACGACGTAGAGC	0.567000													5	45					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58303585	58303585	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:58303585T>C	ENST00000300896.4	-	13	1441	c.1247A>G	c.(1246-1248)aAc>aGc	p.N416S	USP32_ENST00000592339.1_Missense_Mutation_p.N86S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	416	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TACCACAGGGTTGGCATCCTA	0.368000													7	59					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648388	34648388	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:34648388C>G	ENST00000537011.1	+	8	2561	c.2179C>G	c.(2179-2181)Cag>Gag	p.Q727E	NUTM1_ENST00000333756.4_Missense_Mutation_p.Q699E|NUTM1_ENST00000438749.3_Missense_Mutation_p.Q717E					NUT midline carcinoma, family member 1																		CCCCATGGCTCAGAGTTATGA	0.572000													6	49					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56435944	56435944	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:56435944G>A	ENST00000327381.5	+	3	1211	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	371						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTACATGGCCGTCATCAT	0.587000													7	100					0	0	1	0	0
DGCR5	26220	broad.mit.edu	37	22	19002009	19002009	+	RNA	SNP	G	G	T	rs56157180	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:19002009G>T	ENST00000440005.2	+	0	828				DGCR5_ENST00000424407.1_RNA																							ACAAATCCAAGATTAGCACAG	0.458000													3	32					2.56e-06	2.77371e-06	1	1	0
USP17L2	377630	broad.mit.edu	37	8	11994694	11994694	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:11994694G>C	ENST00000333796.3	-	1	1892	c.1576C>G	c.(1576-1578)Ctg>Gtg	p.L526V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	526					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CACACAAGCAGAGCCCTCTTG	0.572000													9	87					0	0	1	0	0
H2AFZ	3015	broad.mit.edu	37	4	100869668	100869668	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:100869668T>C	ENST00000296417.5	-	5	555	c.338A>G	c.(337-339)cAc>cGc	p.H113R	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	113					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TTTGTGGATGTGTGGAATGAC	0.368000													9	90					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401039	11401039	+	Silent	SNP	G	G	A	rs138931078	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:11401039G>A	ENST00000002596.5	-	2	1765	c.591C>T	c.(589-591)caC>caT	p.H197H		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	197						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCATGTGCACGTGGTAGAGGC	0.597000													6	44					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2793882	2793882	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:2793882C>T	ENST00000381163.3	+	10	1445	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V	GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Missense_Mutation_p.A388V|GYG2_ENST00000398806.3_Missense_Mutation_p.A357V|GYG2_ENST00000381161.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	388					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGACTCCTGCCGTGATAACG	0.433000													5	29					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53680438	53680438	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:53680438G>A	ENST00000257934.4	+	18	4009	c.3918G>A	c.(3916-3918)gaG>gaA	p.E1306E	ESPL1_ENST00000552462.1_Silent_p.E1306E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1306					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						CTGGCTCAGAGCCCTCTAAGA	0.532000													6	57					0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:48985612G>C	ENST00000378434.4	-	7	2572	c.948C>G	c.(946-948)ttC>ttG	p.F316L	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.F316L	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338000													14	82					0	0	1	0	0
NPY	4852	broad.mit.edu	37	7	24324938	24324938	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:24324938G>A	ENST00000407573.1	+	3	369	c.79G>A	c.(79-81)Gag>Aag	p.E27K	NPY_ENST00000405982.1_Missense_Mutation_p.E27K|NPY_ENST00000242152.2_Missense_Mutation_p.E27K			P01303	NPY_HUMAN	neuropeptide Y	27					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TGCGCTGGCCGAGGCGTACCC	0.642000													5	55					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70367483	70367483	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:70367483T>G	ENST00000288071.6	+	12	1683	c.1438T>G	c.(1438-1440)Tga>Gga	p.*480G	DDX19B_ENST00000568625.1_Nonstop_Mutation_p.*371G|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000355992.3_Nonstop_Mutation_p.*449G|DDX19B_ENST00000563206.1_Nonstop_Mutation_p.*485G|DDX19B_ENST00000563392.1_Nonstop_Mutation_p.*371G|DDX19B_ENST00000451014.3_Nonstop_Mutation_p.*454G|DDX19B_ENST00000393657.2_Nonstop_Mutation_p.*371G	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	0					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AATAGCCAACTGAGAAGCTCC	0.537000													9	136					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236323	140236323	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140236323G>C	ENST00000307360.5	+	1	690	c.690G>C	c.(688-690)ctG>ctC	p.L230L	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.L230L	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGATCCTGGTGTTAGATG	0.418000													8	132					0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	774185	774185	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:774185G>A	ENST00000293889.6	-	10	1079	c.974C>T	c.(973-975)gCt>gTt	p.A325V		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	325										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GTCAAAAATAGCTTGGGGGTT	0.592000													7	79					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7227188	7227188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7227188C>T	ENST00000399464.2	-	12	2221	c.2206G>A	c.(2206-2208)Gcc>Acc	p.A736T	NEURL4_ENST00000315614.7_Missense_Mutation_p.A736T|NEURL4_ENST00000570460.1_Missense_Mutation_p.A714T	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGCGGAGGGCGGTGCGGCCC	0.622000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	89					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35716472	35716472	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35716472T>C	ENST00000314888.9	-	20	2893	c.2540A>G	c.(2539-2541)gAa>gGa	p.E847G	TLN1_ENST00000540444.1_Missense_Mutation_p.E847G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	847					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGATCACTTTCCCCCTCAGC	0.567000													6	128					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373628	5373628	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5373628T>C	ENST00000380219.1	+	1	891	c.891T>C	c.(889-891)atT>atC	p.I297I	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAAGCAGATTCAGAGTGGCA	0.423000													9	88					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43720272	43720272	+	Missense_Mutation	SNP	C	C	T	rs144680391	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:43720272C>T	ENST00000263801.3	-	18	4007	c.3755G>A	c.(3754-3756)cGt>cAt	p.R1252H	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1257H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1252					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTAATGACACGAGTGACAAG	0.423000								Other conserved DNA damage response genes					12	138					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13121863	13121863	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:13121863C>G	ENST00000319217.7	-	38	5353	c.5106G>C	c.(5104-5106)caG>caC	p.Q1702H	MPDZ_ENST00000541718.1_Missense_Mutation_p.Q1702H|MPDZ_ENST00000381015.4_Missense_Mutation_p.Q1702H|MPDZ_ENST00000538841.1_Missense_Mutation_p.Q561H|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.Q1702H|MPDZ_ENST00000536827.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000447879.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000546205.1_Missense_Mutation_p.Q1716H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1702	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCGCACTCTCTGTGGCGTCT	0.498000													4	40					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24789321	24789321	+	Translation_Start_Site	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:24789321G>C	ENST00000545231.1	-	0	731				DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409775.3_Missense_Mutation_p.L25V|DFNA5_ENST00000342947.3_Missense_Mutation_p.L25V|DFNA5_ENST00000409970.1_Intron			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5						sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GAGTCATTCAGATTTGATACT	0.403000													22	148					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421258	8421258	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:8421258G>A	ENST00000337907.3	-	19	2943	c.2309C>T	c.(2308-2310)gCc>gTc	p.A770V	RERE_ENST00000476556.1_Missense_Mutation_p.A216V|RERE_ENST00000377464.1_Missense_Mutation_p.A502V|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.A770V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	770	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACTGCAGTGGCAGAGGGCGT	0.706000													3	14					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765488	7765488	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:7765488C>T	ENST00000358415.4	+	9	1108	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ITIH2_ENST00000379587.4_Silent_p.V303V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	314	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCCTCTTTGTCATCGATGTGA	0.433000													5	76					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153577807	153577807	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:153577807A>G	ENST00000422373.1	-	46	7903	c.7655T>C	c.(7654-7656)gTg>gCg	p.V2552A	FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.V2520A|FLNA_ENST00000369850.3_Missense_Mutation_p.V2560A|FLNA_ENST00000360319.4_Missense_Mutation_p.V2552A|FLNA_ENST00000369856.3_Missense_Mutation_p.V693A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2560	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGCCACCACCTTGCTGGC	0.652000													5	81					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97084496	97084496	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:97084496C>T	ENST00000335456.7	-	3	849	c.829G>A	c.(829-831)Gag>Aag	p.E277K	NUTM2F_ENST00000341207.4_Missense_Mutation_p.E277K|NUTM2F_ENST00000253262.4_Missense_Mutation_p.E277K					NUT family member 2F																		TCCGCCATCTCGTAGAAGATC	0.642000													10	102					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129483264	129483264	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:129483264C>A	ENST00000543953.1	+	4	301	c.252C>A	c.(250-252)acC>acA	p.T84T	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.T116T|SLC25A14_ENST00000339231.3_Silent_p.T116T|SLC25A14_ENST00000218197.5_Silent_p.T119T|SLC25A14_ENST00000545805.1_Silent_p.T119T			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	119					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CATATGGCACCATTAAAATTG	0.343000													8	72					7.48243e-07	8.13597e-07	1	1	0
ARHGAP44	9912	broad.mit.edu	37	17	12847469	12847469	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:12847469G>A	ENST00000379672.5	+	10	1117	c.817G>A	c.(817-819)Gag>Aag	p.E273K	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E273K|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E273K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	273	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CTTCCCCATCGAGGCGTGTGT	0.642000													8	44					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66638348	66638348	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66638348A>G	ENST00000393960.1	-	8	930	c.649T>C	c.(649-651)Tac>Cac	p.Y217H	PC_ENST00000355677.3_Missense_Mutation_p.Y217H|PC_ENST00000524491.1_Missense_Mutation_p.Y177H|PC_ENST00000393958.2_Missense_Mutation_p.Y217H|PC_ENST00000393955.2_Missense_Mutation_p.Y217H	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	217	ATP-grasp.|Biotin carboxylation.				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)	GCCCGGGTGTAATTCTCCTCC	0.617000													10	140					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152765550	152765550	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152765550T>C	ENST00000367255.5	-	30	4434	c.3833A>G	c.(3832-3834)cAc>cGc	p.H1278R	SYNE1_ENST00000413186.2_Missense_Mutation_p.H1278R|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H1285R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1344R|SYNE1_ENST00000367248.3_Missense_Mutation_p.H1268R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1285R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1278					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTACCTGGTGATGAAGAAG	0.383000										HNSCC(10;0.0054)			9	120					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78173080	78173080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:78173080G>A	ENST00000369947.2	-	1	410	c.41C>T	c.(40-42)gCg>gTg	p.A14V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	14					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CTCGGAGCCCGCGGGCGGCGG	0.642000													13	79					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230192	140230192	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140230192C>T	ENST00000378122.3	+	1	2836	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.I704I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGCCATCTGCGCGGTGT	0.662000													9	87					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3747953	3747953	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:3747953G>A	ENST00000541714.2	+	19	2946	c.2484G>A	c.(2482-2484)ggG>ggA	p.G828G	TJP3_ENST00000589378.1_Silent_p.G837G|TJP3_ENST00000382008.3_Silent_p.G842G|TJP3_ENST00000587686.1_Silent_p.G847G|TJP3_ENST00000539908.2_Silent_p.G792G|TJP3_ENST00000262968.9_Silent_p.G861G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	842						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGGGGGGGCCCTACACGG	0.692000													4	26					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729698	18729698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:18729698G>A	ENST00000440756.2	-	3	778	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	PSD3_ENST00000523619.1_Nonsense_Mutation_p.Q161*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.Q226*			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	226					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATCTCTGCCTGAGTGTCTCCA	0.473000													6	141					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62301181	62301181	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:62301181G>C	ENST00000378024.4	-	5	982	c.708C>G	c.(706-708)ctC>ctG	p.L236L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	236					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCACCTTGGAGCTCTGGTC	0.602000													5	98					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086049	55086049	+	Splice_Site	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:55086049G>T	ENST00000251377.3	+	4	485	c.352_splice	c.e4+1	p.G118_splice	LILRA2_ENST00000391737.1_Splice_Site_p.G106_splice|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Splice_Site_p.G118_splice|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Splice_Site_p.G118_splice|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGTGGTGACAGGTGAGAGGAC	0.607000													7	66					5.18039e-06	5.59299e-06	1	1	0
VCPIP1	80124	broad.mit.edu	37	8	67578144	67578144	+	Silent	SNP	G	G	A	rs117246146		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:67578144G>A	ENST00000310421.4	-	1	1308	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	350	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGTTTCTACCGGAGCTGCTCC	0.483000													19	173					0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92083441	92083441	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:92083441C>T	ENST00000285420.4	+	2	347	c.248C>T	c.(247-249)gCc>gTc	p.A83V	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	53										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GAAGATGTGGCCAAGTTGGAA	0.393000													12	67					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262736	45262736	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:45262736T>C	ENST00000303230.4	-	8	2017	c.1960A>G	c.(1960-1962)Acg>Gcg	p.T654A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	654						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						GTCGGGGTCGTAGTAGACGAT	0.537000													16	80					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601680	58601680	+	Translation_Start_Site	SNP	A	A	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58601680A>T	ENST00000240727.6	-	0	354				ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_De_novo_Start_OutOfFrame|ZSCAN18_ENST00000600404.1_Silent_p.P41P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCAGGGACAAGGTGGCTCCA	0.602000													4	10					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409014	98409014	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:98409014C>T	ENST00000186436.5	-	31	4207	c.3979G>A	c.(3979-3981)Gca>Aca	p.A1327T		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1327	Pro-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGTGTGCGAGGGGGGCG	0.652000													3	15					0	0	1	0	0
TMED3	23423	broad.mit.edu	37	15	79606297	79606297	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:79606297G>C	ENST00000299705.5	+	2	555	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	TMED3_ENST00000536821.1_Missense_Mutation_p.E123Q|TMED3_ENST00000424155.2_Missense_Mutation_p.E123Q	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	123					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						AGTGGGCGATGAGCCTCCCAT	0.522000													5	92					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7701100	7701100	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7701100C>G	ENST00000572933.1	+	53	9643	c.8183C>G	c.(8182-8184)tCt>tGt	p.S2728C	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2728C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2728	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTCACCCTCTGTCGTGCCC	0.522000													12	117					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563209	75563209	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75563209C>T	ENST00000336257.3	-	3	2468	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	CHST5_ENST00000541075.1_Silent_p.A364A|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	358					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGAAGGGCAACGCGTGGCGCC	0.652000													9	73					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54338828	54338828	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54338828C>T	ENST00000243056.3	+	2	937	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	261						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						CCGGCGCGGGCGCAAGAAACG	0.602000			T	NUP98	AML								12	111					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394405	138394405	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:138394405C>T	ENST00000310018.2	-	21	2675	c.2393G>A	c.(2392-2394)gGc>gAc	p.G798D	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G798D|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G798D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	798					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCAGAGAGGCCCTCCATGAT	0.562000													11	212					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567000													11	61					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124839464	124839464	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:124839464G>A	ENST00000423114.2	-	7	889	c.890C>T	c.(889-891)tCc>tTc	p.S297F	SLC12A8_ENST00000314584.7_Missense_Mutation_p.S21F|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S268F|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S69F|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S268F|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	268					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AGCTGCCAGGGAGCCCGGGGG	0.597000													3	25					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146658581	146658581	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:146658581C>T	ENST00000254090.4	-	9	1888	c.1500G>A	c.(1498-1500)atG>atA	p.M500I	FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_3'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	500						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			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)					CTACTCTTGTCATCAGAGGCT	0.448000													7	71					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23625399	23625399	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:23625399C>A	ENST00000261584.4	-	11	3279	c.3127G>T	c.(3127-3129)Ggt>Tgt	p.G1043C	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1043	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGGAGTTGACCAGTTTTTAAA	0.343000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					3	31					0.004672	0.00476575	1	1	0
SIK3	23387	broad.mit.edu	37	11	116730111	116730111	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:116730111G>A	ENST00000375300.1	-	19	2496	c.2491C>T	c.(2491-2493)Cgc>Tgc	p.R831C	SIK3_ENST00000446921.2_Missense_Mutation_p.R831C|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.R773C|SIK3_ENST00000434315.2_Missense_Mutation_p.R672C|SIK3_ENST00000542607.1_Missense_Mutation_p.R773C|SIK3_ENST00000375288.1_Missense_Mutation_p.R168C			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	773	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAGATGCCGCGCCCACTGGAG	0.597000											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	47					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28962832	28962832	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:28962832G>A	ENST00000377179.3	-	7	2459	c.1947C>T	c.(1945-1947)ctC>ctT	p.L649L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCACTGGAGAGAGGGATTTCC	0.413000													4	44					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69255292	69255292	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:69255292G>A	ENST00000374552.4	+	8	1251	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	EDA_ENST00000524573.1_Missense_Mutation_p.E332K|EDA_ENST00000374553.2_Missense_Mutation_p.E335K	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	337					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ACGCAGCATCGAGACGGGCAA	0.552000													5	51					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604569	140604569	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140604569C>A	ENST00000239449.4	+	1	1492	c.1492C>A	c.(1492-1494)Ctg>Atg	p.L498M	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L345M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		498	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCGGCACCTGCCCCTCGC	0.652000													12	188					1.5842e-08	1.73806e-08	1	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39911453	39911453	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:39911453C>G	ENST00000425673.1	+	13	1685	c.1360C>G	c.(1360-1362)Cga>Gga	p.R454G	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R454G|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R454G|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R395G|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R454G			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	454					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCTCGACCTCGAGATGCTAG	0.582000													15	102					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013598	149013598	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:149013598C>T	ENST00000535454.1	+	4	1101	c.552C>T	c.(550-552)tgC>tgT	p.C184C	MAGEA8_ENST00000542674.1_Silent_p.C184C|MAGEA8_ENST00000286482.1_Silent_p.C184C	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	184	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTCACCTGCCTGGGCCTCT	0.552000													7	93					0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140138197	140138197	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:140138197C>G	ENST00000344774.4	-	7	963	c.909G>C	c.(907-909)cgG>cgC	p.R303R		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	303										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						AGTAGGCCCTCCGGGTGCTGT	0.562000													10	186					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80677621	80677621	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:80677621C>G	ENST00000557010.1	-	3	580	c.195G>C	c.(193-195)aaG>aaC	p.K65N	DIO2_ENST00000422005.3_Missense_Mutation_p.K65N|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.K65N|DIO2_ENST00000555750.1_Missense_Mutation_p.K65N	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	65					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGAGGAAGCTCTTCCAGACGC	0.612000													3	31					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606150	1606150	+	Silent	SNP	G	G	A	rs148824156	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:1606150G>A	ENST00000382171.2	-	1	363	c.330C>T	c.(328-330)ggC>ggT	p.G110G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667000													5	48					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6262839	6262839	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:6262839C>T	ENST00000379936.2	+	5	1211	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	CNGA4_ENST00000533426.1_Missense_Mutation_p.P135S	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	366					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCTGCAGCCCCAGACCTA	0.562000													12	163					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374654	8374654	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:8374654C>A	ENST00000538603.1	-	7	1717	c.1159G>T	c.(1159-1161)Gat>Tat	p.D387Y	FAM90A1_ENST00000307435.6_Missense_Mutation_p.D387Y	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	387							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)		TGGGCCCCATCATGGCTGGCC	0.652000													4	40					0.150653	0.151149	1	1	0
FAT3	120114	broad.mit.edu	37	11	92086794	92086794	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92086794T>C	ENST00000298047.6	+	1	1533	c.1516T>C	c.(1516-1518)Tac>Cac	p.Y506H	FAT3_ENST00000525166.1_Missense_Mutation_p.Y356H|FAT3_ENST00000541502.1_Missense_Mutation_p.Y506H|FAT3_ENST00000409404.2_Missense_Mutation_p.Y506H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	506	Cadherin 5.				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)				AGAAAATGGGTACATCACCTA	0.393000										TCGA Ovarian(4;0.039)			7	110					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24443816	24443816	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:24443816C>T	ENST00000355123.4	-	30	4140	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	ITSN2_ENST00000406921.3_Missense_Mutation_p.E1233K|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000361999.3_Missense_Mutation_p.E1206K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1233	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTCACCTCGACGACGAGC	0.552000													10	144					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123234044	123234044	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:123234044C>T	ENST00000349780.4	-	16	2019	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E614K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	614					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCCGAATTTCGCTGatctgc	0.463000													13	77					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34809829	34809829	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:34809829T>A	ENST00000338074.2	+	20	2644	c.2483T>A	c.(2482-2484)aTc>aAc	p.I828N	EPB41L1_ENST00000441639.1_Missense_Mutation_p.I726N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.I726N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.I648N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.I827N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.I719N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	828	Carboxyl-terminal (CTD).				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)					GAGAAGCGAATCATCATTACT	0.542000													7	88					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2880712	2880712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2880712G>T	ENST00000382280.3	+	3	257	c.178G>T	c.(178-180)Gga>Tga	p.G60*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.G30*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	60						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGCCCTGGAGGAGGCAAGTA	0.532000													15	211					8.28177e-16	9.18524e-16	1	1	0
JAKMIP3	282973	broad.mit.edu	37	10	133950586	133950586	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:133950586G>A	ENST00000298622.4	+	6	1318	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AAGTCAGGATGAGAGAGAAGT	0.512000													4	48					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108492787	108492787	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:108492787G>T	ENST00000368986.4	+	2	859	c.151G>T	c.(151-153)Gtc>Ttc	p.V51F	NR2E1_ENST00000368983.3_Missense_Mutation_p.V88F	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	51					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TAGGACCTATGTCTGCAAATC	0.577000													14	145					0.000219431	0.00023118	1	1	0
DIAPH1	1729	broad.mit.edu	37	5	140962827	140962827	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140962827G>A	ENST00000253811.6	-	6	706	c.566C>T	c.(565-567)gCc>gTc	p.A189V	DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A189V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	189	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATAAGGAGGCCAAGCCTTC	0.413000													9	184					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11030598	11030598	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:11030598C>T	ENST00000327064.4	+	10	1342	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	CARM1_ENST00000344150.4_Silent_p.V384V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	384					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CAGGGCTGGTCCACGGCCTGG	0.592000													4	43					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291342	141291342	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:141291342C>A	ENST00000247452.3	-	3	779	c.432G>T	c.(430-432)aaG>aaT	p.K144N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	144	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCGGCCACCTTTTCATCTA	0.493000										HNSCC(46;0.14)			9	183					1.12685e-05	1.21017e-05	1	1	0
AP4E1	23431	broad.mit.edu	37	15	51221216	51221216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:51221216C>T	ENST00000261842.5	+	6	659	c.553C>T	c.(553-555)Cga>Tga	p.R185*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.R110*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	185					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGAGATTGTACGAAGAAAAGC	0.318000													7	44					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53421849	53421849	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:53421849C>T	ENST00000262056.9	+	8	1182	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	EIF4B_ENST00000416762.3_Missense_Mutation_p.R247C|EIF4B_ENST00000420463.3_Missense_Mutation_p.R286C|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	286	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGTGGGTATCGCAGGGATGA	0.498000													8	81					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027054	92027054	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:92027054A>G	ENST00000265742.3	+	19	2789	c.2413A>G	c.(2413-2415)Agc>Ggc	p.S805G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	805							protein binding|zinc ion binding	p.S805G(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGGCGGCAGCAGCAGCCG	0.458000													30	217					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36520550	36520550	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:36520550A>G	ENST00000373191.4	+	18	2627	c.2278A>G	c.(2278-2280)Acc>Gcc	p.T760A	AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Missense_Mutation_p.T526A	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		TCTATAGGGTACCAGTCGTCC	0.408000													7	61					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030321	110030321	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:110030321G>A	ENST00000369870.3	+	5	610	c.595G>A	c.(595-597)Gag>Aag	p.E199K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	199										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)		AGAGAACATCGAGATCATCCC	0.597000													6	98					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776845	38776845	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:38776845C>T	ENST00000308973.4	-	4	972	c.367G>A	c.(367-369)Gat>Aat	p.D123N	TLR10_ENST00000361424.2_Missense_Mutation_p.D123N|TLR10_ENST00000508334.1_Missense_Mutation_p.D123N|TLR10_ENST00000506111.1_Missense_Mutation_p.D123N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	123					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAAGAAAGATCTAAATACCTG	0.373000													6	89					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50006080	50006080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:50006080G>A	ENST00000443081.1	+	3	1745	c.826G>A	c.(826-828)Gat>Aat	p.D276N	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D408N|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	408					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGAGTACCGTGATGTGGATCA	0.522000													4	64					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69874159	69874159	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:69874159G>A	ENST00000359154.2	+	5	572	c.471G>A	c.(469-471)ctG>ctA	p.L157L	WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000448661.1_Silent_p.L157L|WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Silent_p.L157L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	157					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTGCCCTGACAGATGGTG	0.602000													10	84					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214111	11214111	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11214111G>A	ENST00000533467.1	-	1	782	c.783C>T	c.(781-783)ttC>ttT	p.F261F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	261					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CGCAGAACATGAAGACAGGTT	0.408000													18	259					0	0	1	0	0
PRR21	643905	broad.mit.edu	37	2	240981426	240981426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:240981426G>C	ENST00000408934.1	-	1	973	c.974C>G	c.(973-975)tCt>tGt	p.S325C		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	325										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						CGTGGATGAAGAGGCATGGAC	0.597000													23	129					0	0	1	0	0
GBX2	2637	broad.mit.edu	37	2	237074823	237074823	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:237074823C>G	ENST00000306318.4	-	2	1178	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	261						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TTCTCTAGCTCCAGCAGCTGC	0.647000													4	68					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124196	142124196	+	RNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:142124196G>A	ENST00000390376.2	-	0	281																											ACACCAGCCTGAGTGGGAAAT	0.507000													15	311					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30974857	30974857	+	Silent	SNP	G	G	A	rs141357385	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:30974857G>A	ENST00000262519.8	+	5	1307	c.621G>A	c.(619-621)tcG>tcA	p.S207S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA 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						TCCAAGGCTCGGGTGCAGCCA	0.572000													9	93					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8674637	8674637	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:8674637C>T	ENST00000337907.3	-	5	1139	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	RERE_ENST00000400907.2_Missense_Mutation_p.G169R|RERE_ENST00000400908.2_Missense_Mutation_p.G169R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	169	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCCCTCTCCCGGCTTCAGAA	0.507000													14	102					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18242831	18242831	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:18242831C>T	ENST00000262811.5	+	14	1458	c.1458C>T	c.(1456-1458)atC>atT	p.I486I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	486	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACTATGGCATCGTGCACCGTG	0.642000													4	40					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105931110	105931110	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:105931110G>A	ENST00000331320.7	+	15	1658	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	MTA1_ENST00000435036.2_Missense_Mutation_p.A18T|MTA1_ENST00000406191.1_Missense_Mutation_p.A482T|MTA1_ENST00000405646.1_Missense_Mutation_p.A465T	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	482					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GACGCGGATCGCCCGGCGCCT	0.677000													4	25					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54448880	54448880	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:54448880C>A	ENST00000254442.3	+	19	3394	c.3183C>A	c.(3181-3183)gtC>gtA	p.V1061V	WDR7_ENST00000357574.3_Silent_p.V1028V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1061										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TAGACCACGTCATATCACGTA	0.453000													4	51					0.150653	0.151149	1	1	0
HRH1	3269	broad.mit.edu	37	3	11302128	11302128	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:11302128C>T	ENST00000397056.1	+	3	1596	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	HRH1_ENST00000431010.2_Missense_Mutation_p.P469S|HRH1_ENST00000438284.2_Missense_Mutation_p.P469S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	469					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCTCATCTACCCCTTGTGCAA	0.458000													19	173					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120772953	120772953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:120772953G>A	ENST00000378164.2	-	20	2882	c.2584C>T	c.(2584-2586)Cag>Tag	p.Q862*	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	862					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCGTTCTTCTGAAGTACCCGT	0.393000													9	105					0	0	1	0	0
GXYLT2	727936	broad.mit.edu	37	3	73004381	73004381	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:73004381G>C	ENST00000389617.4	+	4	894	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	245					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CCCTGAGCACGAAATCCCCAA	0.493000													5	37					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120569896	120569896	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:120569896G>C	ENST00000427067.2	-	26	2700	c.2520C>G	c.(2518-2520)ctC>ctG	p.L840L	ENPP2_ENST00000522826.1_Silent_p.L844L|ENPP2_ENST00000259486.6_Silent_p.L871L|ENPP2_ENST00000075322.6_Silent_p.L819L|ENPP2_ENST00000522167.1_Silent_p.L454L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	819	Required for secretion (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|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)			GCATCTTCATGAGTTCTTCTA	0.463000													13	130					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149420	34149420	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:34149420G>A	ENST00000346193.3	-	1	1027	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	326										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTCCGGGCGGAGACTGGAC	0.617000													7	46					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885980	180885980	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:180885980C>T	ENST00000367588.4	+	2	796	c.741C>T	c.(739-741)ggC>ggT	p.G247G		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	247								p.G247G(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TTCCAGATGGCGTGGTGACAG	0.587000													17	185					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430045	10430045	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:10430045T>C	ENST00000245503.5	-	30	4442	c.4058A>G	c.(4057-4059)tAt>tGt	p.Y1353C	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Y1353C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1353					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCCTCATACTGTTCCCG	0.582000													14	107					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10415712	10415712	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:10415712G>A	ENST00000274140.5	+	21	2211	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	MARCH6_ENST00000503788.1_Silent_p.T588T|MARCH6_ENST00000449913.2_Silent_p.T645T|MARCH6_ENST00000510792.1_Silent_p.T391T	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	693					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						GGGCTGTGACGGTGATGGTGG	0.483000													5	70					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25072325	25072325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:25072325G>A	ENST00000381989.3	-	6	625	c.520C>T	c.(520-522)Cag>Tag	p.Q174*		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	174					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CGCGAACACTGAAGCTCCACC	0.507000													7	48					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876557	39876557	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:39876557A>G	ENST00000530275.1	+	1	407	c.212A>G	c.(211-213)cAa>cGa	p.Q71R	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	71	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			CCAGAGGTGCAAGATTTTAAA	0.438000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	83					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48703350	48703350	+	Splice_Site	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:48703350G>A	ENST00000236495.5	+	12	1417		c.e12-1		SLC5A9_ENST00000420136.2_Splice_Site|SLC5A9_ENST00000438567.2_Splice_Site|SLC5A9_ENST00000533824.1_Splice_Site	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9							integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCTCTGGCAGAGTGTTTGTG	0.567000													5	55					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98926626	98926626	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:98926626G>A	ENST00000266732.4	+	4	829	c.591G>A	c.(589-591)gtG>gtA	p.V197V	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	197	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACAAGAAAGTGAAGTCCACTA	0.408000													8	107					0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683648	50683648	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:50683648G>A	ENST00000446044.1	+	10	1378	c.782G>A	c.(781-783)gGc>gAc	p.G261D	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.G261D	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	261	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|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)		ATTCGCCTGGGCCAGTACGGC	0.592000													11	171					0	0	1	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105962080	105962080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:105962080G>A	ENST00000278618.4	+	4	791	c.569G>A	c.(568-570)gGa>gAa	p.G190E	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	190					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATTGGTGTTGGACTAGGATTT	0.353000													14	114					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169205	49169205	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49169205C>T	ENST00000307885.4	-	10	2555	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.E621K|ADCY6_ENST00000550422.1_Missense_Mutation_p.E621K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	621					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTCATCCTCAGGGTTCAGG	0.567000													8	62					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89254679	89254679	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:89254679C>T	ENST00000289746.2	+	7	1029	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	322	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGAGGGTGTTCTGTCCATTGT	0.637000													3	27					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	80049247	80049247	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:80049247G>C	ENST00000373275.4	-	5	421	c.205C>G	c.(205-207)Cca>Gca	p.P69A		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	69										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGTAGTCTGGAGGAATGTGT	0.348000													5	46					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025986	203025986	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:203025986G>A	ENST00000367240.2	+	18	2779	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	PPFIA4_ENST00000447715.2_Missense_Mutation_p.R750H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R266H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R266H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R266H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R479H			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	266					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCGCCAAGCGCAAGGGCATC	0.622000													8	42					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785336	12785336	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:12785336C>A	ENST00000332530.3	+	3	442	c.216C>A	c.(214-216)gcC>gcA	p.A72A	AADACL3_ENST00000359318.5_Silent_p.A142A	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	142							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAATAGCCGCAGTGGTTT	0.567000													12	134					5.16669e-11	5.69924e-11	1	1	0
TBCD	6904	broad.mit.edu	37	17	80763847	80763847	+	Silent	SNP	C	C	T	rs139258497	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:80763847C>T	ENST00000355528.4	+	10	1177	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	TBCD_ENST00000539345.2_Silent_p.D349D|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	349					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			aagatgacgacgaagatgacg	0.602000													4	43					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81051988	81051988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:81051988C>T	ENST00000334512.5	+	11	1404	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	278					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGACTTCACTCAGCCCgcggc	0.672000													13	128					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431786	89431786	+	RNA	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:89431786C>G	ENST00000532352.1	+	0	2068							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						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						TTTAGAGACTCTGTATTGAAT	0.343000													9	55					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30122127	30122127	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:30122127C>A	ENST00000449742.2	-	7	1140	c.1065G>T	c.(1063-1065)ctG>ctT	p.L355L	TRIM10_ENST00000376704.3_Silent_p.L355L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	355	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CAGTGTGGGCCAGAACACAGG	0.612000													4	37					0.00116845	0.00120397	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				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)				cgccgccgccgccaccgccgc	0.706000													3	24					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61539102	61539102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:61539102C>T	ENST00000278836.5	+	6	967	c.871C>T	c.(871-873)Cga>Tga	p.R291*	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Nonsense_Mutation_p.R282*	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GCACCCCACTCGAGCCCCATC	0.657000													11	126					0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103835694	103835694	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:103835694T>C	ENST00000545943.1	-	6	679	c.54A>G	c.(52-54)agA>agG	p.R18R	ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000297431.4_Silent_p.R150R|ORC5_ENST00000447452.2_Silent_p.R150R			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	150					cell cycle checkpoint|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	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAGTCACATTTCTGTCAGCCT	0.348000													7	73					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57092099	57092099	+	Splice_Site	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:57092099G>C	ENST00000261556.6	+	12	1520		c.e12-1		TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000538838.1_Splice_Site	NM_017799.3	NP_060269.3			transmembrane protein 260																		TTTTCTGGCAGATGATGACTT	0.378000													6	86					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26520297	26520297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:26520297C>T	ENST00000456354.2	+	3	444	c.377C>T	c.(376-378)tCt>tTt	p.S126F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	126					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTTGTTCTCTACCATAGAT	0.507000													11	93					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901949	40901949	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:40901949C>A	ENST00000324001.7	-	7	2580	c.2310G>T	c.(2308-2310)aaG>aaT	p.K770N	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	770	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)			CCTCTGGTGCCTTCGGAAGAT	0.592000													38	135					2.20474e-14	2.44081e-14	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181689432	181689432	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:181689432C>G	ENST00000526775.1	+	14	2007	c.1842C>G	c.(1840-1842)atC>atG	p.I614M	CACNA1E_ENST00000360108.3_Missense_Mutation_p.I614M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I614M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I614M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I221M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I565M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I565M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	614					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						TCCTCTTCATCGTTGTCTTTG	0.468000													4	29					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48718299	48718299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:48718299C>T	ENST00000294952.8	+	15	1746	c.1589C>T	c.(1588-1590)tCt>tTt	p.S530F	PPP1R21_ENST00000281394.4_Missense_Mutation_p.S530F|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S530F	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	530										endometrium(2)|kidney(4)|lung(9)	15						TATATGAAGTCTTTGAGAAAG	0.383000													6	63					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													7	58					0.00198382	0.00203383	1	1	0
BCAN	63827	broad.mit.edu	37	1	156617836	156617836	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156617836C>T	ENST00000329117.4	+	5	1039	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R235W	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	235	Link 1.				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)					CCCCGGGGTCCGGAACTATGG	0.517000													8	108					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29206468	29206468	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:29206468G>A	ENST00000321990.4	+	18	4418	c.4040G>A	c.(4039-4041)gGc>gAc	p.G1347D		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1347					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATGTTTGATGGCTGCTTTGAA	0.294000													7	53					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180775644	180775644	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:180775644G>C	ENST00000367590.4	+	6	830	c.632G>C	c.(631-633)aGa>aCa	p.R211T	XPR1_ENST00000367589.3_Missense_Mutation_p.R211T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	211						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GATGGTGACAGACAAAAGGCT	0.373000													7	91					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109111839	109111839	+	Missense_Mutation	SNP	G	G	C	rs148279219		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:109111839G>C	ENST00000309863.6	+	20	5254	c.4540G>C	c.(4540-4542)Gag>Cag	p.E1514Q		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1514					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACCCGGGAAGAGGGAGAAGG	0.483000													4	39					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059120	59059120	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:59059120G>A	ENST00000361488.3	+	5	1211	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	111						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGAGAGCGGCGTGCAGAGGGA	0.652000													4	37					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15480730	15480730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:15480730C>T	ENST00000382020.4	+	2	488	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	TUSC3_ENST00000506802.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000503731.1_Nonsense_Mutation_p.Q94*	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	94					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CACTGCTCTTCAGCCTCAGCG	0.323000													5	85					0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370407	65370407	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:65370407C>T	ENST00000432196.2	+	1	1254	c.1254C>T	c.(1252-1254)ggC>ggT	p.G418G		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	418						cytoplasm				lung(1)|prostate(1)|skin(1)	3						CCATCGAGGGCGGCACCTGGC	0.652000													5	14					0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50261849	50261849	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:50261849C>G	ENST00000357464.3	+	12	1618	c.1618C>G	c.(1618-1620)Cag>Gag	p.Q540E	PAPD5_ENST00000561678.1_Missense_Mutation_p.Q509E|PAPD5_ENST00000436909.3_Missense_Mutation_p.Q619E|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	493					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.Q619*(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGTCCTCTCAGGCAGTTGG	0.488000													4	43					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820669	26820669	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:26820669G>T	ENST00000444914.3	+	7	1526	c.1106G>T	c.(1105-1107)aGg>aTg	p.R369M	SLC13A2_ENST00000545060.1_Missense_Mutation_p.R277M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.R249M|SLC13A2_ENST00000314669.5_Missense_Mutation_p.R320M	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	320						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ACCGAGCACAGGCTGCTGGGC	0.587000													6	47					0.248553	0.248961	1	1	0
FAM161B	145483	broad.mit.edu	37	14	74411195	74411195	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:74411195C>T	ENST00000286544.3	-	3	1155	c.957G>A	c.(955-957)ttG>ttA	p.L319L	FAM161B_ENST00000534936.1_Silent_p.L256L	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TGAAGGGCTTCAAAGAAGAGA	0.562000													6	100					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48428758	48428758	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:48428758C>G	ENST00000435803.1	+	37	11619	c.11595C>G	c.(11593-11595)ttC>ttG	p.F3865L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3865	ABC transporter 1.				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						GCCTGACCTTCTACAGAGACC	0.537000													9	58					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239824	155239824	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:155239824A>G	ENST00000424344.3	+	10	1620	c.1253A>G	c.(1252-1254)aAc>aGc	p.N418S	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.N439S			Q01113	IL9R_HUMAN	interleukin 9 receptor	439					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.N439S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcaacaacaacaAC	0.642000													5	17					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170881	77170881	+	Silent	SNP	G	G	A	rs146509068		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:77170881G>A	ENST00000253506.5	+	2	975	c.606G>A	c.(604-606)acG>acA	p.T202T	NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.T202T|NFATC1_ENST00000427363.2_Silent_p.T202T|NFATC1_ENST00000329101.4_Silent_p.T189T|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.T202T|NFATC1_ENST00000592223.1_Silent_p.T189T|NFATC1_ENST00000591814.1_Silent_p.T202T|NFATC1_ENST00000586434.1_Silent_p.T189T|NFATC1_ENST00000318065.5_Silent_p.T189T	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	202	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCCCCCAGACGTCGCCATGGC	0.697000													11	101					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530434	5530434	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5530434G>C	ENST00000311659.4	-	2	502	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	119										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCTTGGCTGAGGGAGTGAT	0.607000													4	46					0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47797166	47797166	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:47797166C>G	ENST00000240364.2	-	5	743	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	222										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						AATACCTCCTCCAGCTCTTGG	0.637000													8	93					0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48465980	48465980	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:48465980T>C	ENST00000321341.5	+	14	1730	c.1458T>C	c.(1456-1458)atT>atC	p.I486I	ME2_ENST00000585680.1_Intron|ME2_ENST00000382927.3_Intron	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	486					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CCCGGCATATTAGTGACAGTG	0.299000													5	85					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13095576	13095576	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:13095576C>T	ENST00000506447.1	+	35	6409	c.6329C>T	c.(6328-6330)tCt>tTt	p.S2110F	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.S1635F|CEP192_ENST00000325971.8_Missense_Mutation_p.S1514F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1705										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCAGGGTTCTCCTCTTCTC	0.507000													8	75					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109765452	109765452	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:109765452C>T	ENST00000368952.4	-	25	3493	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H	MICAL1_ENST00000358577.3_Missense_Mutation_p.R963H|MICAL1_ENST00000358807.3_Missense_Mutation_p.R1049H			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1049					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTCCTGGAAGCGGATGAGGGC	0.592000													4	43					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715777	101715777	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:101715777G>C	ENST00000342239.3	-	4	1545	c.1454C>G	c.(1453-1455)tCa>tGa	p.S485*	DNMBP_ENST00000324109.4_Nonsense_Mutation_p.S485*|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	485					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCTTGAAGCTGAAACAGAAGA	0.463000													7	117					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962840	88962840	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:88962840C>T	ENST00000333190.4	+	4	1153	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CGATAAACAGCGGTCCACCAT	0.413000										HNSCC(36;0.09)			5	79					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055216	62055216	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:62055216G>T	ENST00000577390.1	-	2	1046	c.92C>A	c.(91-93)cCg>cAg	p.P31Q	CDH8_ENST00000577730.1_Missense_Mutation_p.P31Q|CDH8_ENST00000299345.6_Missense_Mutation_p.P31Q|CDH8_ENST00000584337.1_Missense_Mutation_p.P31Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	31					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)		CTGATTCATCGGAGCCATGTA	0.458000													7	88					5.18039e-06	5.59299e-06	1	1	0
ANKS6	203286	broad.mit.edu	37	9	101552604	101552604	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:101552604G>A	ENST00000353234.4	-	2	691	c.644C>T	c.(643-645)gCg>gTg	p.A215V	ANKS6_ENST00000375018.1_Missense_Mutation_p.A215V|ANKS6_ENST00000540940.1_Missense_Mutation_p.A20V|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	215										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTGGGGTCCGCGCCCCACTC	0.692000													6	51					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143676239	143676239	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:143676239C>A	ENST00000264170.4	+	3	489	c.231C>A	c.(229-231)ggC>ggA	p.G77G	KYNU_ENST00000410015.2_Silent_p.G77G|KYNU_ENST00000409512.1_Silent_p.G77G|KYNU_ENST00000375773.2_Silent_p.G77G	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	77					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATTCTCTTGGCCTTCAACCAA	0.279000													5	51					0.000602214	0.000622628	1	1	0
COL16A1	1307	broad.mit.edu	37	1	32163681	32163681	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:32163681G>T	ENST00000373672.3	-	6	999	c.483C>A	c.(481-483)ccC>ccA	p.P161P	COL16A1_ENST00000271069.6_Silent_p.P161P|COL16A1_ENST00000373668.3_Silent_p.P161P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	161	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CGAAGAGCTGGGGCACTGGGA	0.617000													9	68					1.12685e-05	1.21017e-05	1	1	0
CDH9	1007	broad.mit.edu	37	5	26906877	26906877	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:26906877G>C	ENST00000231021.4	-	4	766	c.594C>G	c.(592-594)gtC>gtG	p.V198V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATATGCTATAGACCACTTTGG	0.398000													4	52					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31816027	31816027	+	Silent	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:31816027A>G	ENST00000446923.2	+	9	3553	c.3162A>G	c.(3160-3162)gaA>gaG	p.E1054E	ZEB1_ENST00000560721.2_Silent_p.E1050E|ZEB1_ENST00000542815.3_Silent_p.E1003E|ZEB1_ENST00000361642.5_Silent_p.E1071E|ZEB1_ENST00000320985.10_Silent_p.E1070E	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1070	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				aggaggaggaagaagtggaag	0.448000													3	20					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52998973	52998973	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:52998973G>T	ENST00000259803.7	-	3	436	c.225C>A	c.(223-225)tcC>tcA	p.S75S		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	75						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CACCCAGGCAGGACTTCTTGA	0.607000													7	87					1.6384e-10	1.80401e-10	1	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54894338	54894338	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54894338C>T	ENST00000293373.6	+	3	314	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R29C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	79					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.R79C(1)		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						ACCAGTACATCGTGAAAAAGC	0.378000													9	163					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57843646	57843646	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:57843646A>G	ENST00000264230.4	-	1	1343	c.106T>C	c.(106-108)Tgc>Cgc	p.C36R		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	36							GTP binding										GCGGCAGCGCACCTCCTCTCC	0.657000													4	40					0	0	1	0	0
WFDC3	140686	broad.mit.edu	37	20	44404233	44404233	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:44404233C>T	ENST00000243938.4	-	6	585	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	WFDC3_ENST00000372630.2_Missense_Mutation_p.G31S|WFDC3_ENST00000372632.2_Missense_Mutation_p.G74S|WFDC3_ENST00000481847.1_5'UTR	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	168	WAP 4.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGACAATCACCGCCCCGCCCT	0.532000													6	83					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12978714	12978714	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:12978714C>T	ENST00000251472.4	+	20	2528	c.2489C>T	c.(2488-2490)gCg>gTg	p.A830V		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	830					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCGACCCCGCGGGATCCCTG	0.711000													6	21					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42104154	42104154	+	Splice_Site	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:42104154G>A	ENST00000457542.2	+	6	613		c.e6-1		MAPKBP1_ENST00000456763.2_Splice_Site|MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site|MAPKBP1_ENST00000221214.6_Splice_Site	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1											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)		CCTCCCTGCAGAGTGGGCACA	0.607000											OREG0023077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	49					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52887776	52887776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:52887776C>T	ENST00000422689.2	+	4	958	c.943C>T	c.(943-945)Cag>Tag	p.Q315*		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	315					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGCACGACATCAGAAAATTCA	0.423000													8	43					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585208	43585208	+	Silent	SNP	G	G	A	rs148293206	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:43585208G>A	ENST00000406487.1	-	2	353	c.255C>T	c.(253-255)gaC>gaT	p.D85D		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	85	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.D85D(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTATTTGACCGTCTACTACAT	0.443000													14	363					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150945607	150945607	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:150945607C>T	ENST00000262188.8	-	1	452	c.42G>A	c.(40-42)acG>acA	p.T14T	SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000356800.2_Intron	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	14					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTTGCTTTTCGTGGCTTTGC	0.592000													5	99					0	0	1	0	0
IGFBP3	3486	broad.mit.edu	37	7	45956231	45956231	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:45956231A>T	ENST00000275521.6	-	3	799	c.666T>A	c.(664-666)aaT>aaA	p.N222K	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.N228K|IGFBP3_ENST00000381086.5_Missense_Mutation_p.N125K	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	222	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTTCAGGTGATTCAGTGTGT	0.463000													12	119					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46322292	46322292	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:46322292C>G	ENST00000465950.1	-	1	1456	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	SCAF11_ENST00000549162.1_Missense_Mutation_p.E206Q|SCAF11_ENST00000369367.3_Missense_Mutation_p.E398Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.E398Q			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	398					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGATTTTTCAGGGGCAGCT	0.408000													8	119					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1729444	1729444	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:1729444C>T	ENST00000313288.4	+	4	421	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	105						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCCAACAGCTCATCAAGGAAG	0.483000													31	350					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91348417	91348417	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:91348417A>G	ENST00000358859.2	-	1	536	c.103T>C	c.(103-105)Tgg>Cgg	p.W35R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CAGGACGACCAGGAGCTCAAG	0.657000													3	15					0	0	1	0	0
PSENEN	55851	broad.mit.edu	37	19	36237739	36237739	+	Silent	SNP	C	C	T	rs148274462		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:36237739C>T	ENST00000587708.2	+	4	980	c.297C>T	c.(295-297)ggC>ggT	p.G99G	PSENEN_ENST00000591949.1_3'UTR|AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000222266.2_Silent_p.G99G			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	99					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|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACCCCTGGGCACCCCCTGAC	0.592000													8	37					0	0	1	0	0
TMEM189	387521	broad.mit.edu	37	20	48744600	48744600	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:48744600G>C	ENST00000557021.1	-	5	763	c.603C>G	c.(601-603)ctC>ctG	p.L201L	TMEM189_ENST00000371652.4_Silent_p.L201L|TMEM189_ENST00000371650.5_Silent_p.L198L|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.L201L|TMEM189_ENST00000371656.2_Silent_p.L126L	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			AGTCCTGCAGGAGGGTGACCC	0.587000													7	58					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151284016	151284016	+	RNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:151284016G>A	ENST00000509345.2	-	0	320																											GAGACATGACGACTCTGGTCA	0.592000													9	146					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74756406	74756406	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74756406G>A	ENST00000377526.3	-	3	501	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	87						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						TCCGCACTACGAATCTGGGGA	0.637000													4	30					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383191	109383191	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:109383191G>A	ENST00000283195.6	+	20	6322	c.6196G>A	c.(6196-6198)Gag>Aag	p.E2066K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2066	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTCAAAAACGAGGTCAATGG	0.398000													38	414					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148463737	148463737	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:148463737G>A	ENST00000325222.4	+	8	1153	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	CUL1_ENST00000602748.1_Missense_Mutation_p.E292K|CUL1_ENST00000409469.1_Missense_Mutation_p.E292K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGAAATGTGAACAAGTCCT	0.378000													13	54					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69813867	69813867	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:69813867G>A	ENST00000337827.4	+	13	1709	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	GALNT16_ENST00000553669.1_Missense_Mutation_p.R461K|GALNT16_ENST00000448469.3_Missense_Mutation_p.R461K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GGGATCTGCAGAGGGTCTGCC	0.592000											OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	34					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12826503	12826503	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:12826503C>T	ENST00000425528.1	-	6	733	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TNPO2_ENST00000356861.5_Missense_Mutation_p.E126K|TNPO2_ENST00000592287.1_Missense_Mutation_p.E126K|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000441499.1_Missense_Mutation_p.E126K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E126K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E126K			O14787	TNPO2_HUMAN	transportin 2	126					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCAGCAGCTCGGGCCACATC	0.617000													3	21					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745629	135745629	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:135745629C>T	ENST00000375845.3	-	7	843	c.813G>A	c.(811-813)tcG>tcA	p.S271S	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.S288S|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S158S|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GATCCATCAACGACTTAACTA	0.483000													18	85					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74411111	74411111	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:74411111C>G	ENST00000286544.3	-	3	1239	c.1041G>C	c.(1039-1041)aaG>aaC	p.K347N	FAM161B_ENST00000534936.1_Missense_Mutation_p.K284N	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCTTGGAGATCTTGGCTTCAG	0.542000													8	145					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66827446	66827446	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:66827446C>G	ENST00000423207.2	+	8	1430	c.945C>G	c.(943-945)gtC>gtG	p.V315V	PDE4B_ENST00000371045.5_Silent_p.V158V|PDE4B_ENST00000371049.3_Silent_p.V330V|PDE4B_ENST00000329654.4_Silent_p.V330V|PDE4B_ENST00000480109.2_Silent_p.V97V	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	330					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GCTTTGGAGTCAACACTGAAA	0.418000													6	57					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291421	62291421	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:62291421C>T	ENST00000378024.4	-	5	10742	c.10468G>A	c.(10468-10470)Gaa>Aaa	p.E3490K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3490					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGCCCTTCTGCTTTTAAG	0.463000													7	129					0	0	1	0	0
RPRML	388394	broad.mit.edu	37	17	45056080	45056080	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45056080C>G	ENST00000322329.3	-	1	534	c.294G>C	c.(292-294)atG>atC	p.M98I	RP11-156P1.2_ENST00000571841.1_Intron|LRRC37A17P_ENST00000570478.1_RNA|GOSR2_ENST00000439730.2_Intron	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	98						integral to membrane				lung(1)	1						GAAAGTTGATCATGCTCTCGG	0.657000													4	16					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144398271	144398271	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:144398271G>C	ENST00000523676.1	-	12	1467	c.1062C>G	c.(1060-1062)atC>atG	p.I354M	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I452M			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	452					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			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)	TGTAGGATAAGATCTTAGCTG	0.602000													6	77					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937131	76937131	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:76937131G>C	ENST00000373344.5	-	9	3831	c.3617C>G	c.(3616-3618)tCt>tGt	p.S1206C	ATRX_ENST00000395603.3_Missense_Mutation_p.S1168C|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1206	Poly-Ser.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTATATCAGAAGAAGATGA	0.378000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	192					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44099016	44099016	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:44099016C>T	ENST00000422989.1	-	2	630	c.475G>A	c.(475-477)Gag>Aag	p.E159K	IRGQ_ENST00000602269.1_Missense_Mutation_p.E159K	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	159							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCTAGCTCCTCGCAGCCGTCG	0.667000													13	24					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38919111	38919111	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:38919111G>A	ENST00000359357.3	+	80	11869	c.11615G>A	c.(11614-11616)cGt>cAt	p.R3872H	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4089H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3836H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCCAGACCGTACTGTTTTT	0.338000													16	144					0	0	1	0	0
MRPL17	63875	broad.mit.edu	37	11	6704001	6704001	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:6704001G>A	ENST00000288937.6	-	2	324	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	74					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGCCATGCGCATGGCTCGT	0.527000													3	32					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947702	165947702	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:165947702G>A	ENST00000360093.3	-	28	5452	c.4961C>T	c.(4960-4962)gCg>gTg	p.A1654V	SCN3A_ENST00000540861.1_Missense_Mutation_p.A137V|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1654V|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1605V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1654						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTAAACAACGCAGGAAGGGA	0.483000													7	163					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101063333	101063333	+	RNA	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:101063333C>T	ENST00000313669.7	+	0	426				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		TGGTCCAGCGCGTGTACCAGA	0.642000													6	31					0	0	1	0	0
ACADVL	37	broad.mit.edu	37	17	7127027	7127027	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7127027C>T	ENST00000356839.5	+	12	1426	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	ACADVL_ENST00000350303.5_Missense_Mutation_p.A394V|ACADVL_ENST00000543245.2_Missense_Mutation_p.A439V	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	416	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						ATAGAGGCCGCCATCAGCAAA	0.532000													10	101					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3961447	3961447	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:3961447G>A	ENST00000381638.2	-	32	5130	c.5006C>T	c.(5005-5007)tCc>tTc	p.S1669F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1669							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGGAGCAAGGACCTAAAGGG	0.468000													3	34					0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186425655	186425655	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:186425655G>A	ENST00000284770.5	-	7	952	c.879C>T	c.(877-879)ctC>ctT	p.L293L	PDLIM3_ENST00000284771.6_Silent_p.L245L|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	293	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ATTTGTCACAGAGCGGCATCC	0.502000													5	33					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113704019	113704019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:113704019C>T	ENST00000550785.1	+	5	657	c.488C>T	c.(487-489)cCc>cTc	p.P163L	TPCN1_ENST00000335509.6_Missense_Mutation_p.P91L|TPCN1_ENST00000541517.1_Missense_Mutation_p.P163L|TPCN1_ENST00000392569.4_Missense_Mutation_p.P23L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	91						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCACCCACCCCAAGGATGCC	0.582000													24	202					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30104749	30104749	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:30104749C>T	ENST00000380752.5	-	5	1016	c.630G>A	c.(628-630)gtG>gtA	p.V210V		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	210					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCGATCCTTTCACAAATCCTG	0.443000													19	144					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999318	83999318	+	Silent	SNP	C	C	T	rs149907599	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:83999318C>T	ENST00000343939.2	+	7	1772	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	OSGIN1_ENST00000393306.1_Silent_p.L380L|OSGIN1_ENST00000361711.3_Silent_p.L380L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	463					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TCCAGGACCTCGAGGGTGTCG	0.642000													4	52					0	0	1	0	0
RHOD	29984	broad.mit.edu	37	11	66838947	66838947	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66838947C>T	ENST00000308831.2	+	5	592	c.507C>T	c.(505-507)ctC>ctT	p.L169L	RHOD_ENST00000532559.1_Silent_p.L103L	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	169					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TGGCCTACCTCGAGTGCTCGG	0.687000													4	26					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54681872	54681872	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:54681872G>A	ENST00000605337.1	+	6	1097	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	MRPL37_ENST00000360840.5_Missense_Mutation_p.R350H|MRPL37_ENST00000336230.6_Missense_Mutation_p.R219H			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	350					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ACGGATGGACGTGTCTTCCAT	0.517000													11	96					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201333480	201333480	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:201333480G>T	ENST00000509001.1	-	10	691	c.405C>A	c.(403-405)gcC>gcA	p.A135A	TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000367320.2_Silent_p.A105A|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000360372.4_Silent_p.A130A|TNNT2_ENST00000458432.2_Silent_p.A147A|TNNT2_ENST00000236918.7_Silent_p.A140A	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	145					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTGCTGCTCGGCCCGCTCTG	0.642000													4	27					0.014758	0.0149293	1	1	0
SCAP	22937	broad.mit.edu	37	3	47462227	47462227	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:47462227G>T	ENST00000265565.5	-	12	1792	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A	SCAP_ENST00000545718.1_Silent_p.A68A|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.A205A	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	460					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGGCAGGCAGGCCTCAGGGG	0.657000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	36					0.000602214	0.000622628	1	1	0
DENND2A	27147	broad.mit.edu	37	7	140301642	140301642	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:140301642A>G	ENST00000275884.6	-	2	973	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DENND2A_ENST00000537639.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000496613.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000492720.1_Missense_Mutation_p.Y186H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	186										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGTGGGGAGTAACAAGTCCCT	0.607000													12	75					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131803638	131803638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:131803638G>A	ENST00000326016.5	+	14	2468	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.R590H|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.R152H|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.R579H	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	650					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TACCTGACGCGCCAGAAGCAC	0.667000													11	94					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34724286	34724286	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:34724286G>A	ENST00000360581.1	+	2	398	c.270G>A	c.(268-270)ctG>ctA	p.L90L	NPSR1_ENST00000465305.1_Silent_p.L90L|NPSR1_ENST00000381553.3_Silent_p.L90L|NPSR1_ENST00000359791.1_Silent_p.L90L|NPSR1_ENST00000381539.3_Silent_p.L90L|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.L90L|NPSR1_ENST00000531252.1_Silent_p.L90L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	90						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGACTCAGCTGGCCATCACAG	0.393000													6	69					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31238116	31238116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:31238116C>A	ENST00000383329.3	-	4	780	c.766G>T	c.(766-768)Gag>Tag	p.E256*	HLA-C_ENST00000376228.5_Nonsense_Mutation_p.E256*			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	256	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCTGGTCTCCACAAGCTCG	0.627000													7	89					0.00198382	0.00203383	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61511065	61511065	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:61511065C>G	ENST00000266070.4	-	16	6568	c.6243G>C	c.(6241-6243)caG>caC	p.Q2081H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q2081H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2081					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTCGAAAGTCTGGTTTCTGT	0.677000													22	224					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715107	92715107	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92715107C>T	ENST00000257068.2	+	2	724	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	240					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGAGAGCAGGCTGTGCCTGAA	0.577000													10	71					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57348692	57348692	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:57348692G>A	ENST00000398138.3	-	2	1426	c.570C>T	c.(568-570)ctC>ctT	p.L190L	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	190					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.L190L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						ACCCATACCTGAGGGAGTCAG	0.567000													6	53					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977960	120977960	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:120977960G>C	ENST00000273666.6	+	18	2174	c.1903G>C	c.(1903-1905)Gat>Cat	p.D635H	STXBP5L_ENST00000472879.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D635H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	635					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTGTGGGTAGATGGTGAACC	0.348000													4	58					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41075704	41075704	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:41075704G>C	ENST00000324545.7	+	35	6517	c.5884G>C	c.(5884-5886)Gat>Cat	p.D1962H	USP9X_ENST00000378308.2_Missense_Mutation_p.D1962H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1962					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						AATAGACCAAGATGATGAGTT	0.393000													14	146					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152776698	152776698	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152776698T>C	ENST00000367255.5	-	24	3356	c.2755A>G	c.(2755-2757)Aag>Gag	p.K919E	SYNE1_ENST00000413186.2_Missense_Mutation_p.K919E|SYNE1_ENST00000367253.4_Missense_Mutation_p.K919E|SYNE1_ENST00000265368.4_Missense_Mutation_p.K919E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K926E|SYNE1_ENST00000495090.2_Missense_Mutation_p.K486E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K985E|SYNE1_ENST00000367248.3_Missense_Mutation_p.K909E|SYNE1_ENST00000423061.1_Missense_Mutation_p.K926E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	919					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATGCTTCTTCCAATCTCCA	0.428000										HNSCC(10;0.0054)			8	104					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158557391	158557391	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:158557391G>C	ENST00000251527.5	-	9	1287	c.1222C>G	c.(1222-1224)Cca>Gca	p.P408A		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	436	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCCACTTTGGACTGAGGTTC	0.512000													13	132					0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206858718	206858718	+	Silent	SNP	C	C	G	rs150764573		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:206858718C>G	ENST00000367103.3	+	1	337	c.144C>G	c.(142-144)gtC>gtG	p.V48V	MAPKAPK2_ENST00000294981.4_Silent_p.V48V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	48					activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTTCCACGTCAAGTCCGGCC	0.697000													3	22					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179096140	179096140	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:179096140G>A	ENST00000471841.1	+	13	1467	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	MFN1_ENST00000263969.5_Silent_p.K447K|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	447					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AATTAAATAAGCACATAGAGG	0.318000													6	59					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386639	124386639	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:124386639C>T	ENST00000303921.2	-	2	2432	c.1782G>A	c.(1780-1782)tcG>tcA	p.S594S		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	594						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACTGAAAGGCGAGAGTTCGA	0.463000													16	121					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74653396	74653396	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74653396G>A	ENST00000305557.5	-	13	2212	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	RTKN_ENST00000272430.5_Missense_Mutation_p.R556C|RTKN_ENST00000233330.6_Missense_Mutation_p.R506C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	556	Pro-rich.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGCCAAGTGCGAGGTTGGCCT	0.622000													13	176					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472945	70472945	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:70472945G>A	ENST00000373998.1	-	2	858	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZMYM3_ENST00000373988.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000353904.2_Missense_Mutation_p.S54L|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S54L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S54L|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S54L	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	54					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGGGCTCCCGAGGATGGAGA	0.607000											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060436	128060436	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:128060436G>T	ENST00000254730.6	+	5	1201	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	EEFSEC_ENST00000483457.1_Missense_Mutation_p.D328Y|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	383						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCTGTCCAAGGATTTGACACC	0.532000													4	53					0.000602214	0.000622628	1	1	0
ZNF217	7764	broad.mit.edu	37	20	52188284	52188284	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:52188284C>G	ENST00000371471.2	-	5	3571	c.3146G>C	c.(3145-3147)tGa>tCa	p.*1049S	ZNF217_ENST00000302342.3_Nonstop_Mutation_p.*1049S|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	0					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTAGTGAATCAAGTTTTTTT	0.413000													7	62					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85149785	85149785	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:85149785G>A	ENST00000334141.3	+	3	658	c.432G>A	c.(430-432)ccG>ccA	p.P144P	ZSCAN2_ENST00000546148.1_Intron|ZSCAN2_ENST00000379358.3_Intron|ZSCAN2_ENST00000327179.6_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000448803.2_Intron	NM_017894.5	NP_060364.4	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	0					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CTTCCCTTCCGGTGGAGGTGA	0.438000													6	61					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18198093	18198093	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:18198093C>G	ENST00000321105.5	-	10	1211	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.E238Q|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	333					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCAGCTTCTCAAGCTCCTGT	0.448000													4	38					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981265	45981265	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:45981265T>C	ENST00000260324.7	+	9	1531	c.1145T>C	c.(1144-1146)gTg>gCg	p.V382A	SQRDL_ENST00000568606.1_Missense_Mutation_p.V382A	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	382							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGTCCACTGGTGACCGGCTAC	0.393000													16	138					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129043274	129043274	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:129043274T>C	ENST00000326639.6	+	11	1666	c.1455T>C	c.(1453-1455)aaT>aaC	p.N485N	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000427266.1_Silent_p.N485N|LARP1B_ENST00000441387.1_Silent_p.N485N|LARP1B_ENST00000264584.5_Silent_p.N438N|LARP1B_ENST00000512292.1_Silent_p.N485N	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	485							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGTTATCAATGATGGCTTAT	0.403000													18	117					0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	419693	419693	+	RNA	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:419693G>C	ENST00000451020.2	-	0	1345					NR_002451.2																						CCTCCAGGTTGAAGGTCTGTT	0.438000													5	33					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42017296	42017296	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:42017296G>C	ENST00000395925.3	-	12	1757	c.1673C>G	c.(1672-1674)tCg>tGg	p.S558W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	558					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCTAGTCTCGAGTAGGCCTT	0.458000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	84					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52518381	52518381	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:52518381A>G	ENST00000242839.4	-	14	3263	c.3107T>C	c.(3106-3108)gTc>gCc	p.V1036A	ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.V925A|ATP7B_ENST00000418097.2_Missense_Mutation_p.V971A|ATP7B_ENST00000344297.5_Missense_Mutation_p.V829A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.V958A|ATP7B_ENST00000400370.3_Missense_Mutation_p.V606A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1036					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)		GACCCTGGGGACGCCATGGGT	0.567000									Wilson disease				6	43					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186555	37186555	+	RNA	SNP	C	C	T	rs9893920	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:37186555C>T	ENST00000425901.2	+	0	397					NR_033753.2																						GAACCTTCTCCAGTCCAGCAA	0.587000													4	42					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566511	55566511	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:55566511G>A	ENST00000373965.2	-	36	5277	c.4883C>T	c.(4882-4884)gCg>gTg	p.A1628V	PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCTTCACCGCTGTATTGTC	0.448000										HNSCC(58;0.16)			18	255					0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94187823	94187823	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:94187823G>A	ENST00000393140.1	-	5	531	c.429C>T	c.(427-429)aaC>aaT	p.N143N	PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Silent_p.N143N	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	143					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CTACTCCTTTGTTGCTCTGCG	0.572000													4	42					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159462434	159462434	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:159462434C>T	ENST00000367066.3	-	6	760	c.429G>A	c.(427-429)gcG>gcA	p.A143A	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_5'UTR|TAGAP_ENST00000338313.5_Silent_p.A143A|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	143	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCAGATCCACCGCATCCCCAG	0.552000													13	77					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155744857	155744857	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:155744857C>A	ENST00000437809.1	-	17	2408	c.2286G>T	c.(2284-2286)ctG>ctT	p.L762L	GON4L_ENST00000368331.1_Silent_p.L762L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L762L|GON4L_ENST00000271883.5_Silent_p.L762L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	762					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)					AGTCTTCAATCAGCTGCATAG	0.463000													5	57					0.0215528	0.0217669	1	1	0
MGAT4C	25834	broad.mit.edu	37	12	86373610	86373610	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:86373610C>G	ENST00000604798.1	-	8	2098	c.894G>C	c.(892-894)caG>caC	p.Q298H	MGAT4C_ENST00000552808.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.Q327H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	298					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						TCACATTTTTCTGAGCCAACA	0.383000													11	95					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225365164	225365164	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:225365164G>A	ENST00000264414.4	-	11	1864	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M	CUL3_ENST00000344951.4_Missense_Mutation_p.T443M|CUL3_ENST00000409777.1_Missense_Mutation_p.T485M|CUL3_ENST00000409096.1_Missense_Mutation_p.T485M	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	509					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATATCCTGTCGTGAGCACCCG	0.423000													8	108					0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32085276	32085276	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:32085276G>A	ENST00000403528.2	+	4	728	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Missense_Mutation_p.G115S|HCRTR1_ENST00000373706.5_Missense_Mutation_p.G115S	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	115					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CTGGCTGTTCGGCCATGCCCT	0.582000													3	23					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32639270	32639270	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr21:32639270G>C	ENST00000286827.3	-	5	490	c.19C>G	c.(19-21)Caa>Gaa	p.Q7E	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.Q7E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	7					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	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor 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						TCTACATGTTGACTTTCTGCG	0.527000													8	50					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960129	215960129	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:215960129T>C	ENST00000366943.2	-	52	10656	c.10270A>G	c.(10270-10272)Att>Gtt	p.I3424V	USH2A_ENST00000307340.3_Missense_Mutation_p.I3424V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3424	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGTGCAAATGTGGCTGGTA	0.463000										HNSCC(13;0.011)			6	59					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138615205	138615205	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:138615205G>A	ENST00000251691.4	+	20	3610	c.3444G>A	c.(3442-3444)tcG>tcA	p.S1148S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1148					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.S1077S(1)		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)		AGAAAGCATCGCAGTCTCAGC	0.433000													7	68					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37655262	37655262	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:37655262T>C	ENST00000378588.4	+	6	609	c.542T>C	c.(541-543)gTc>gCc	p.V181A	CYBB_ENST00000545017.1_Missense_Mutation_p.V149A|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	181	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ACTGGAGTTGTCATCACGCTG	0.458000													7	95					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24952396	24952396	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:24952396G>C	ENST00000405141.1	+	18	3624	c.2913G>C	c.(2911-2913)gaG>gaC	p.E971D	NCOA1_ENST00000407230.1_Missense_Mutation_p.E820D|NCOA1_ENST00000288599.5_Missense_Mutation_p.E971D|NCOA1_ENST00000348332.3_Missense_Mutation_p.E971D|NCOA1_ENST00000406961.1_Missense_Mutation_p.E971D|NCOA1_ENST00000538539.1_Missense_Mutation_p.E971D|NCOA1_ENST00000395856.3_Missense_Mutation_p.E971D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	971	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTATCAGAGAGATTTCCAC	0.403000			T	PAX3	alveolar rhadomyosarcoma								13	109					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8021986	8021986	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:8021986C>G	ENST00000296372.8	-	12	1355	c.1213G>C	c.(1213-1215)Gac>Cac	p.D405H	ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D438H|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D405H|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D405H|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D405H|ABLIM2_ENST00000407564.3_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	405					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						GGCTTGCTGTCAGAGAGCACG	0.622000													5	36					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811382	116811382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:116811382G>C	ENST00000288466.7	+	14	1620	c.1521G>C	c.(1519-1521)caG>caC	p.Q507H	ZNF618_ENST00000374126.5_Missense_Mutation_p.Q600H|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACTGGGTGCAGAACGTGCTGT	0.602000													9	64					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24975727	24975727	+	Missense_Mutation	SNP	C	C	T	rs13306252	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:24975727C>T	ENST00000250378.3	-	3	322	c.293G>A	c.(292-294)cGt>cAt	p.R98H	CMA1_ENST00000206446.4_5'UTR|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	98	Peptidase S1.		R -> H (in dbSNP:rs13306252).		interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TTTTGGATGACGGAATTGCTT	0.423000													12	134					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156914199	156914199	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156914199C>T	ENST00000368194.3	-	31	4057	c.3018G>A	c.(3016-3018)atG>atA	p.M1006I	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.M382I|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.M966I	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	966	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCATGGATCATTTTTCTGG	0.493000													5	59					0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170558169	170558169	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:170558169G>C	ENST00000359744.3	+	4	1076	c.688G>C	c.(688-690)Gat>Cat	p.D230H	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	230							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CTCAGGTGTTGATATAATTTC	0.338000													9	58					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27539953	27539953	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:27539953G>A	ENST00000356183.4	-	6	954	c.939C>T	c.(937-939)atC>atT	p.I313I	GTF3C1_ENST00000561623.1_Silent_p.I313I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	313						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATTCAGGGTGGATCTCTTGCA	0.507000													15	126					0	0	1	0	0
BTBD1	53339	broad.mit.edu	37	15	83698895	83698895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83698895G>A	ENST00000261721.4	-	5	1250	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|BTBD1_ENST00000379403.2_Nonsense_Mutation_p.R350*|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	350						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TACCTGATTCGATCACTCGTC	0.448000													40	380					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089332	115089332	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:115089332G>A	ENST00000361283.1	+	3	324	c.15G>A	c.(13-15)caG>caA	p.Q5Q		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	5					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										AAGCATTCCAGGAACTTCGTA	0.378000													12	113					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427202	38427202	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:38427202C>T	ENST00000322350.5	+	14	2248	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	EGFLAM_ENST00000336740.6_Silent_p.F400F|EGFLAM_ENST00000354891.3_Silent_p.F634F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	634	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACCTTTCCTTCATGGAATTTG	0.493000													18	140					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124266008	124266008	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:124266008G>C	ENST00000395571.3	-	3	2796	c.2179C>G	c.(2179-2181)Cag>Gag	p.Q727E	ZHX1_ENST00000297857.2_Missense_Mutation_p.Q727E|ZHX1_ENST00000522655.1_Missense_Mutation_p.Q727E|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	727					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGCGCTCTGATAGTAGTAG	0.502000													10	91					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610460	81610460	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:81610460G>A	ENST00000541158.2	+	11	2380	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	TSHR_ENST00000298171.2_Silent_p.Q686Q|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	686					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.Q686H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGGCCTTCCAGAGGGATGTGT	0.478000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						19	145					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028991	59028991	+	Missense_Mutation	SNP	C	C	T	rs117819245	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:59028991C>T	ENST00000594051.1	-	2	530	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZBTB45_ENST00000600990.1_Missense_Mutation_p.R17H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.R17H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AAGCAGAGAGCGTGAGAAGTT	0.592000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028001	37028001	+	Silent	SNP	C	C	T	rs149060980	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:37028001C>T	ENST00000358047.3	+	1	1570	c.1518C>T	c.(1516-1518)cgC>cgT	p.R506R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	506								p.R506R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACACGCGTATCTCATC	0.617000													13	154					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825751	4825751	+	Missense_Mutation	SNP	G	G	C	rs112773148	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:4825751G>C	ENST00000380382.1	-	1	96	c.97C>G	c.(97-99)Cta>Gta	p.L33V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATAAACTAGAATAATTTCA	0.303000													6	72					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56569758	56569758	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:56569758C>G	ENST00000390649.3	+	14	3452	c.3452C>G	c.(3451-3453)tCt>tGt	p.S1151C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1151						mitochondrion|nucleolus	ATP binding	p.S1151C(1)		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)		TGTCCCACGTCTAACTTACAG	0.483000													4	29					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128935448	128935448	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:128935448G>C	ENST00000375990.3	+	33	3998	c.3595G>C	c.(3595-3597)Gat>Cat	p.D1199H	UGGT1_ENST00000259253.6_Missense_Mutation_p.D1223H			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1223					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	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						CTTGCTGAGTGATGGAACGAG	0.388000													9	131					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79999689	79999689	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:79999689G>A	ENST00000373275.4	-	8	871	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	219								p.R219C(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAGTGTCCACGAAGTGTAGCA	0.403000													10	138					0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20761221	20761221	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:20761221G>A	ENST00000400451.2	+	5	2412	c.1898G>A	c.(1897-1899)gGc>gAc	p.G633D	ZNF74_ENST00000356671.5_Missense_Mutation_p.G633D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.G601D	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	633					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCCAGAGCTGGCAGGAATTTC	0.572000													7	34					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90611533	90611533	+	Silent	SNP	C	C	T	rs144375764		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:90611533C>T	ENST00000268154.4	+	2	1415	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCGCGGCTTCGCCTACCCCA	0.642000													5	69					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946011	21946011	+	Missense_Mutation	SNP	G	G	A	rs139249411		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:21946011G>A	ENST00000406877.3	-	6	1096	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CDCA7L_ENST00000373934.4_Missense_Mutation_p.R227W|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R239W	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	273					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCGCACTCCGGGTTGGGTTC	0.527000													12	164					0	0	1	0	0
DAZAP2	9802	broad.mit.edu	37	12	51634709	51634709	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:51634709G>A	ENST00000412716.3	+	3	803	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	DAZAP2_ENST00000425012.2_Missense_Mutation_p.A63T|DAZAP2_ENST00000604900.1_Missense_Mutation_p.A63T|DAZAP2_ENST00000551313.1_Missense_Mutation_p.A3T|DAZAP2_ENST00000449723.3_Missense_Mutation_p.A63T|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000549555.1_Missense_Mutation_p.A63T			Q15038	DAZP2_HUMAN	DAZ associated protein 2	63	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CACCATGTCAGCCGCATTTCC	0.532000													5	92					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185108526	185108526	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:185108526G>A	ENST00000367504.3	-	9	1566	c.827C>T	c.(826-828)gCc>gTc	p.A276V	TRMT1L_ENST00000367506.5_Missense_Mutation_p.A432V			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	432						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						AACAATTCTGGCTGCTAGTTC	0.398000													3	29					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136879	80136879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:80136879G>A	ENST00000466387.1	+	11	1736	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	CTNNA2_ENST00000402739.4_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	338					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.V338M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTGCAACGCCGTGCGGCAGGC	0.597000													6	59					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46400039	46400039	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:46400039G>C	ENST00000445132.2	+	2	1516	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	CCR2_ENST00000292301.4_Intron|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Intron	NM_001123396.1	NP_001116868.1	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	0					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGAGACAGTGGATGGAGTGAC	0.473000													4	32					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34964340	34964340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:34964340G>A	ENST00000250156.7	+	4	1014	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MRM1_ENST00000585770.1_Missense_Mutation_p.E64K	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	259					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGCAGGGAATGAGGGCTCAGG	0.617000													8	68					0	0	1	0	0
CTU2	348180	broad.mit.edu	37	16	88778042	88778042	+	Splice_Site	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:88778042G>T	ENST00000567949.1	+	5	291		c.e5-1		CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site|CTU2_ENST00000378384.3_Splice_Site			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCTCCCTCTAGGGCCTGAGCC	0.527000													5	59					0.000602214	0.000622628	1	1	0
TAS2R46	259292	broad.mit.edu	37	12	11214216	11214216	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11214216T>G	ENST00000533467.1	-	1	677	c.678A>C	c.(676-678)aaA>aaC	p.K226N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	226					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGCAAAGCTTTTATGTGGA	0.403000													26	229					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817771	77817771	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:77817771C>A	ENST00000334306.2	-	1	1231	c.1232G>T	c.(1231-1233)gGg>gTg	p.G411V		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	411																	GTCTTTGGGCCCACTGCTGCT	0.567000													14	104					7.93312e-07	8.61068e-07	1	1	0
CTAGE5	4253	broad.mit.edu	37	14	39782616	39782616	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:39782616C>A	ENST00000553728.1	+	18	3084	c.2871C>A	c.(2869-2871)agC>agA	p.S957R	CTAGE5_ENST00000341502.5_Missense_Mutation_p.S422R|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S427R|CTAGE5_ENST00000280083.3_Missense_Mutation_p.S422R|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S410R|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S422R|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S342R|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S347R|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S393R																							AAAAGATCAGCCATGCCACTG	0.308000													6	72					1.12685e-05	1.21017e-05	1	1	0
EIF2B3	8891	broad.mit.edu	37	1	45341334	45341334	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:45341334C>G	ENST00000360403.2	-	9	1135	c.1009G>C	c.(1009-1011)Gaa>Caa	p.E337Q	EIF2B3_ENST00000372183.3_Missense_Mutation_p.E337Q	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	337					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTGGTGGTTCTTCTGGACAG	0.507000													6	65					0	0	1	0	0
DENND6A	201627	broad.mit.edu	37	3	57613942	57613942	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:57613942C>G	ENST00000311128.5	-	20	1896	c.1826G>C	c.(1825-1827)tGa>tCa	p.*609S		NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		TGGCAAATATCATGTCATGCC	0.438000													10	99					0	0	1	0	0
RBM4	5936	broad.mit.edu	37	11	66411036	66411036	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66411036G>A	ENST00000409406.1	+	2	1305	c.528G>A	c.(526-528)ccG>ccA	p.P176P	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.P151P|RBM4_ENST00000310092.7_Silent_p.P176P|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_Silent_p.P176P|RBM4_ENST00000503028.2_Silent_p.P176P|RBM4_ENST00000514361.3_Silent_p.P151P|RBM4_ENST00000578778.1_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AAGAGTGTCCGATAGATCGTT	0.572000													5	66					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43025447	43025447	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:43025447C>G	ENST00000161559.6	-	4	1064	c.930G>C	c.(928-930)agG>agC	p.R310S	CEACAM1_ENST00000403461.1_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.R310S|CEACAM1_ENST00000308072.4_Missense_Mutation_p.R270S|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000599389.1_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.R310S	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	310	Ig-like C2-type 2.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGACTGTGGTCCTGTTGCAGC	0.448000													12	227					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012273	160012273	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:160012273C>T	ENST00000368089.3	-	2	276	c.50G>A	c.(49-51)aGc>aAc	p.S17N		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	17						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGGGGCCGGCTTTCTGTCTG	0.537000													6	58					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271520	59271520	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:59271520G>A	ENST00000313253.1	+	1	472	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCACTCCATCGTGCAGATCTC	0.547000													15	151					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2283182	2283182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2283182G>T	ENST00000301727.4	+	7	1102	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	E4F1_ENST00000565090.1_Nonsense_Mutation_p.E352*|E4F1_ENST00000564139.1_Nonsense_Mutation_p.E352*	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	352					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CCTGGCCCCAGAGGTGGGGGC	0.652000													10	90					0.000673444	0.000695095	1	1	0
C17orf67	339210	broad.mit.edu	37	17	54893318	54893318	+	Translation_Start_Site	SNP	G	G	A	rs117984213	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:54893318G>A	ENST00000397861.2	-	0	1133				C17orf67_ENST00000575658.1_De_novo_Start_OutOfFrame			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67							extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GACTCTGAGCGTTTTAGTAAT	0.423000													3	31					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021140	7021140	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:7021140C>G	ENST00000278314.4	-	3	2089	c.1774G>C	c.(1774-1776)Gat>Cat	p.D592H	ZNF214_ENST00000536068.1_Missense_Mutation_p.D592H	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	592					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)		GAATTATGATCAAATCCCTTA	0.333000													9	56					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73738804	73738804	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:73738804G>A	ENST00000200181.3	+	25	3111	c.2924G>A	c.(2923-2925)gGc>gAc	p.G975D	ITGB4_ENST00000579662.1_Missense_Mutation_p.G975D|ITGB4_ENST00000339591.3_Missense_Mutation_p.G975D|ITGB4_ENST00000450894.3_Missense_Mutation_p.G975D|ITGB4_ENST00000449880.2_Missense_Mutation_p.G975D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	975					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)			GCCACCCTCGGCCGCCGCCTG	0.657000													3	33					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117758580	117758580	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:117758580C>G	ENST00000276204.6	+	32	3624	c.3550C>G	c.(3550-3552)Cga>Gga	p.R1184G	DOCK11_ENST00000276202.7_Missense_Mutation_p.R1184G			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1184					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATTAGCAGGTCGAGATACCTT	0.358000													20	194					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016216	38016216	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:38016216G>A	ENST00000261439.4	+	3	859	c.504G>A	c.(502-504)acG>acA	p.T168T	TBC1D1_ENST00000508802.1_Silent_p.T168T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	168						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCGACGACACGTTTTCCAAGA	0.617000													11	125					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141233932	141233932	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:141233932G>C	ENST00000287008.3	-	5	3536	c.3389C>G	c.(3388-3390)tCt>tGt	p.S1130C	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCATGTGTCAGAGTGGCCAAA	0.607000													3	25					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25762243	25762243	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:25762243G>A	ENST00000377905.4	+	2	172	c.53G>A	c.(52-54)gGc>gAc	p.G18D	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Missense_Mutation_p.G18D	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	18					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.G18D(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCAGTGATGGCAATTTAAAC	0.418000													3	28					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384641	108384641	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:108384641T>A	ENST00000265843.4	-	6	1703	c.1593A>T	c.(1591-1593)gaA>gaT	p.E531D	EXPH5_ENST00000428840.1_Missense_Mutation_p.E455D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E343D|EXPH5_ENST00000525344.1_Missense_Mutation_p.E524D|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	531					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAAAATGATTCCCAGTGTT	0.413000													11	84					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6983142	6983142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:6983142C>A	ENST00000389658.3	-	40	5845	c.5752G>T	c.(5752-5754)Gaa>Taa	p.E1918*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1918	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCCAGTTCCTCCGATTCT	0.498000													7	65					0.000274275	0.000288462	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60686226	60686226	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:60686226G>A	ENST00000400324.4	-	3	528	c.308C>T	c.(307-309)tCa>tTa	p.S103L	DIAPH3_ENST00000400320.1_Missense_Mutation_p.S92L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S103L|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S103L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S92L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	103					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGGTGCTGCTGAGCAATCACT	0.408000													15	175					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25176366	25176366	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:25176366C>T	ENST00000409280.1	-	10	1306	c.998G>A	c.(997-999)gGa>gAa	p.G333E	C7orf31_ENST00000283905.3_Missense_Mutation_p.G333E			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	333										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGCAATTCGTCCTTCCAACGG	0.433000													11	162					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524481	9524481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:9524481G>C	ENST00000592904.1	-	5	3196	c.1120C>G	c.(1120-1122)Cac>Gac	p.H374D	ZNF266_ENST00000361451.2_Missense_Mutation_p.H374D|ZNF266_ENST00000588933.1_Missense_Mutation_p.H374D|ZNF266_ENST00000592292.1_Missense_Mutation_p.H374D|ZNF266_ENST00000361151.1_Missense_Mutation_p.H374D|ZNF266_ENST00000590306.1_Missense_Mutation_p.H374D|ZNF266_ENST00000588221.1_Missense_Mutation_p.H374D			Q14584	ZN266_HUMAN	zinc finger protein 266	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TCTCCACTGTGAGTTCGTGCA	0.448000													10	103					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100981	168100981	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:168100981G>A	ENST00000409195.1	+	9	3168	c.3079G>A	c.(3079-3081)Gac>Aac	p.D1027N	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D805N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1027N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	852					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGGCCCATTGACCAGTTTGA	0.368000													5	66					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009419	120009419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:120009419C>T	ENST00000371311.3	-	1	360	c.106G>A	c.(106-108)Ggc>Agc	p.G36S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	36										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCGGAGTCGCCGCCCTCCTGG	0.731000													10	79					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169757994	169757994	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:169757994G>C	ENST00000375363.3	+	1	245	c.153G>C	c.(151-153)caG>caC	p.Q51H	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.Q51H|G6PC2_ENST00000429379.2_Missense_Mutation_p.Q51H	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	51					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AATTTAATCAGACAGTTGGAA	0.313000													6	49					0	0	1	0	0
C15orf40	123207	broad.mit.edu	37	15	83679041	83679041	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83679041G>A	ENST00000304177.5	-	2	219	c.105C>T	c.(103-105)tgC>tgT	p.C35C	C15orf40_ENST00000538348.2_Silent_p.C62C|C15orf40_ENST00000513601.2_Silent_p.C62C|C15orf40_ENST00000451195.3_Silent_p.C62C|C15orf40_ENST00000565712.1_Intron|RP11-382A20.5_ENST00000566841.1_RNA	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	35										large_intestine(3)|lung(2)|skin(1)	6						CTATGGTGACGCATCCTTTAG	0.483000													15	139					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118566	58118566	+	Missense_Mutation	SNP	G	G	A	rs138050368	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58118566G>A	ENST00000332854.6	+	3	1893	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R558H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCTTTTACCCGCAAAAATCAC	0.453000													8	87					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	102996176	102996176	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:102996176G>C	ENST00000435765.1	+	5	637	c.226G>C	c.(226-228)Gca>Cca	p.A76P	PSMC2_ENST00000292644.3_Missense_Mutation_p.A76P|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GGCCCCACCAGCACTCTGGGA	0.443000													6	44					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37059048	37059048	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:37059048C>T	ENST00000231790.2	+	10	1058	c.842C>T	c.(841-843)gCa>gTa	p.A281V	MLH1_ENST00000539477.1_Missense_Mutation_p.A40V|MLH1_ENST00000458205.2_Missense_Mutation_p.A40V|MLH1_ENST00000455445.2_Missense_Mutation_p.A40V|MLH1_ENST00000536378.1_Missense_Mutation_p.A40V|MLH1_ENST00000435176.1_Missense_Mutation_p.A183V	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	281			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACAGTGTATGCAGCCTATTTG	0.428000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	85					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113275247	113275247	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:113275247A>G	ENST00000401783.2	-	5	1598	c.1262T>C	c.(1261-1263)cTa>cCa	p.L421P	SVEP1_ENST00000374469.1_Missense_Mutation_p.L398P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.L398P|SVEP1_ENST00000302728.8_Missense_Mutation_p.L421P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	421	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACCATTGGGTAGACATAAGAT	0.433000													9	58					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47666772	47666772	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr21:47666772G>A	ENST00000397708.1	-	22	4573	c.4319C>T	c.(4318-4320)gCc>gTc	p.A1440V	MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1440V|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1440					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCATCAATGGCACCATCACT	0.577000													13	138					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227552	75227552	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:75227552G>T	ENST00000342232.4	-	2	723	c.683C>A	c.(682-684)tCc>tAc	p.S228Y		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	228	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGAAGACTTGGATTCGGACTT	0.577000													11	109					0.00136819	0.00140742	1	1	0
IGHG4	3503	broad.mit.edu	37	14	106090882	106090882	+	RNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:106090882G>A	ENST00000390543.2	-	0	914																											GCATCACGGAGCATGAGAAGA	0.617000													4	62					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625775	141625775	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:141625775C>T	ENST00000389484.3	-	26	5198	c.4227G>A	c.(4225-4227)atG>atA	p.M1409I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1409					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGCACCACTCATAGAGGCAG	0.373000										TSP Lung(27;0.18)			6	90					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226829801	226829801	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:226829801T>C	ENST00000429204.1	-	5	2599	c.2272A>G	c.(2272-2274)Aag>Gag	p.K758E	ITPKB_ENST00000272117.3_Missense_Mutation_p.K758E	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	758							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)				TTCCGGGCCTTCGTGAGCTCC	0.647000													8	113					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67272176	67272176	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:67272176G>A	ENST00000258201.4	-	5	723	c.476C>T	c.(475-477)tCa>tTa	p.S159L	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	159	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAGCCCCTCTGAATGCACAAA	0.597000													7	39					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	34					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784558	90784558	+	Silent	SNP	C	C	A	rs147221532	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:90784558C>A	ENST00000558017.1	+	4	838	c.418C>A	c.(418-420)Cgg>Agg	p.R140R	GDPGP1_ENST00000329600.6_Silent_p.R140R	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	140					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										CCGTTTGCACCGGGAGCCTGA	0.602000													13	94					0.00010058	0.000106517	1	1	0
ANKRD10	55608	broad.mit.edu	37	13	111563113	111563113	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:111563113T>C	ENST00000375758.5	-	2	349	c.215A>G	c.(214-216)gAg>gGg	p.E72G	ANKRD10_ENST00000267339.2_Missense_Mutation_p.E72G|ANKRD10_ENST00000310847.4_Missense_Mutation_p.E72G			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	72										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)			CACTAAGCACTCCAACTTCGA	0.478000													6	59					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135363201	135363201	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:135363201T>C	ENST00000367837.5	-	3	379	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000415177.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.Y58C|HBS1L_ENST00000314674.3_Missense_Mutation_p.Y58C|HBS1L_ENST00000445176.2_5'UTR	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	58					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CAGATCTTCATAATCATATTC	0.358000													6	40					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704242	68704242	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68704242A>G	ENST00000255078.3	+	13	2405	c.2294A>G	c.(2293-2295)cAc>cGc	p.H765R		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	765	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCGAGGAGCACGGGCTGAGG	0.612000													4	47					0	0	1	0	0
TTC36	143941	broad.mit.edu	37	11	118398294	118398294	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:118398294G>A	ENST00000302783.4	+	1	108	c.85G>A	c.(85-87)Gga>Aga	p.G29R	RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000539546.1_5'UTR	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	29							binding			lung(2)	2						ATTGGACCTCGGAGAGGAAGC	0.537000													13	205					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44152667	44152667	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:44152667G>C	ENST00000223357.3	+	19	2952	c.2647G>C	c.(2647-2649)Gag>Cag	p.E883Q	AEBP1_ENST00000450684.2_Missense_Mutation_p.E458Q	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	883	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTCCCTCATGAGAGTGAGCT	0.587000													8	187					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52211386	52211386	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:52211386T>A	ENST00000282588.6	+	15	2408	c.1950T>A	c.(1948-1950)gaT>gaA	p.D650E		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	650					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTCTGACAGATGTGACTATTG	0.468000													9	124					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113678	94113678	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:94113678G>C	ENST00000243673.2	-	4	1080	c.909C>G	c.(907-909)ctC>ctG	p.L303L	GPR83_ENST00000539203.2_Silent_p.L261L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	303						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAACCAGCAGAGGGCAAAGA	0.527000													9	96					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117375351	117375351	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:117375351G>A	ENST00000160373.3	-	15	3751	c.3660C>T	c.(3658-3660)agC>agT	p.S1220S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1220										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTTTCAGTGCTGCGATTTT	0.388000													5	81					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													11	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8974003	8974003	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:8974003T>C	ENST00000397910.4	-	76	42871	c.42668A>G	c.(42667-42669)tAc>tGc	p.Y14223C	MUC16_ENST00000380951.5_Missense_Mutation_p.Y864C|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14286				Missing (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						CAGGGTGATGTACTCTGAGGA	0.517000													4	14					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47324916	47324916	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:47324916G>A	ENST00000396220.1	-	6	687	c.665C>T	c.(664-666)gCg>gTg	p.A222V	PREX1_ENST00000371941.3_Missense_Mutation_p.A222V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTCTGGACCGCGGGGTGGTC	0.582000													15	187					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45153219	45153219	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:45153219C>T	ENST00000425690.3	+	3	865	c.566C>T	c.(565-567)aCg>aTg	p.T189M	PVR_ENST00000403059.4_Missense_Mutation_p.T189M|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.T189M|PVR_ENST00000344956.4_Missense_Mutation_p.T189M	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	189	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	p.T189M(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		ATGCCCAATACGAGCCAGGTG	0.632000													18	86					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46712964	46712964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:46712964C>T	ENST00000299138.7	-	6	669	c.611G>A	c.(610-612)cGa>cAa	p.R204Q		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	204					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTCTCTATCTCGGCTATGTCC	0.433000													7	63					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214613	3214613	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:3214613C>T	ENST00000380059.3	-	6	789	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	SLC4A11_ENST00000380056.3_Missense_Mutation_p.A203T|SLC4A11_ENST00000539553.1_Missense_Mutation_p.A187T|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	203					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTCACTGTGGCGGTGACCCCT	0.647000													11	81					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924442	226924442	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:226924442G>A	ENST00000429204.1	-	2	1045	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	ITPKB_ENST00000272117.3_Missense_Mutation_p.R240W|ITPKB_ENST00000366784.1_Missense_Mutation_p.R240W	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	240							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)				GGGGCAGCCCGGCCGGGAAGA	0.602000													8	111					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292499	33292499	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:33292499G>A	ENST00000280979.4	+	13	5650	c.5480G>A	c.(5479-5481)gGc>gAc	p.G1827D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1827					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGATGAAGGGCAGTAAAGAT	0.383000													8	114					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845298	106845298	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106845298C>G	ENST00000276185.4	+	16	4128	c.4128C>G	c.(4126-4128)ctC>ctG	p.L1376L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1376						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCGTGAGCCTCAGCAGCCCCA	0.642000													8	62					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99894228	99894228	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:99894228T>C	ENST00000327681.6	-	14	1952	c.1420A>G	c.(1420-1422)Agc>Ggc	p.S474G	USP45_ENST00000392738.2_Missense_Mutation_p.S154G|USP45_ENST00000500704.2_Missense_Mutation_p.S474G|USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Missense_Mutation_p.S426G	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	474					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TTCATGAGGCTGGCAAACATT	0.398000													12	71					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52318995	52318995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:52318995C>T	ENST00000371068.5	+	5	929	c.826C>T	c.(826-828)Cga>Tga	p.R276*	EFHC1_ENST00000538167.1_Nonsense_Mutation_p.R257*|EFHC1_ENST00000433625.2_Nonsense_Mutation_p.R185*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	276	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.R276*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GGTGGAAATTCGAGAGGTCCA	0.448000													12	99					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103814353	103814353	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:103814353A>G	ENST00000302251.5	-	5	1032	c.581T>C	c.(580-582)gTa>gCa	p.V194A	PDGFD_ENST00000393158.2_Missense_Mutation_p.V200A	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	200					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GGGATCCGTTACTGATGGAGA	0.418000													5	23					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930441	184930441	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:184930441C>G	ENST00000308497.4	+	3	1885	c.450C>G	c.(448-450)ctC>ctG	p.L150L	STOX2_ENST00000438269.1_Silent_p.L150L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	150					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTCCTTCCCTCATAAGAACTA	0.532000													8	50					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:76046980A>G	ENST00000335749.4	+	3	2406	c.1837A>G	c.(1837-1839)Aaa>Gaa	p.K613E	TNRC6C_ENST00000541771.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.K613E	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	613	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522000													8	86					0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134401348	134401348	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:134401348T>C	ENST00000372215.4	-	6	713	c.620A>G	c.(619-621)gAt>gGt	p.D207G	UCK1_ENST00000372211.3_Missense_Mutation_p.D212G|UCK1_ENST00000372210.3_Missense_Mutation_p.D198G|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Silent_p.R175R	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	207					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GATGATCACATCGGCATACTT	0.537000													7	109					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135741392	135741392	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:135741392G>C	ENST00000370629.2	+	5	660	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.E181Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	202					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CGGTAGATTCGAGAGAATCTT	0.483000									Immune Deficiency with Hyper-IgM				35	344					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722266	16722266	+	RNA	SNP	C	C	T	rs2656363	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:16722266C>T	ENST00000417510.1	-	0	1464																											TGGGCATCCTCGCCCTCCAGC	0.592000													4	48					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468852	160468852	+	Missense_Mutation	SNP	G	G	A	rs141234361		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:160468852G>A	ENST00000356956.1	+	17	2406	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TACAACTTCCGGTGGTACACC	0.552000													8	94					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140641384	140641384	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:140641384C>G	ENST00000509479.2	-	5	3366	c.2510G>C	c.(2509-2511)gGa>gCa	p.G837A	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	833	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGGTCCTATTCCCATCATGCC	0.607000													9	146					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57597804	57597804	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:57597804C>A	ENST00000340339.4	+	5	865	c.342C>A	c.(340-342)ccC>ccA	p.P114P	GPR114_ENST00000349457.3_Silent_p.P114P|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	114					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P114P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGCAGTTCCCCGCCGAGCTGA	0.622000													13	80					0.0135373	0.01374	1	1	0
OR6B1	135946	broad.mit.edu	37	7	143701563	143701563	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:143701563G>A	ENST00000408922.2	+	1	542	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A158A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTCCCTGGCGAAGATCTACT	0.532000													8	74					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274151	68274151	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:68274151T>C	ENST00000347230.4	-	5	988	c.850A>G	c.(850-852)Aca>Gca	p.T284A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.T284A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	284					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCTTTTCTGTGACCTTCTCT	0.597000													7	44					0	0	1	0	0
KIAA1191	57179	broad.mit.edu	37	5	175782579	175782579	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:175782579C>T	ENST00000298569.4	-	4	735	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	KIAA1191_ENST00000393728.2_Intron|RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.A49T|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A68T	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	68							protein binding	p.A68T(1)		endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GATACCTTGGCGAGGTGCTGA	0.592000													6	108					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58480325	58480325	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:58480325G>A	ENST00000344743.3	-	4	365	c.224C>T	c.(223-225)aCt>aTt	p.T75I	GLYAT_ENST00000529732.1_Missense_Mutation_p.T75I|GLYAT_ENST00000278400.3_Missense_Mutation_p.T75I	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	75					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)	GATTTGGTAAGTATTGGTATA	0.318000													5	85					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137092654	137092654	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:137092654T>C	ENST00000453654.1	-	30	2457	c.1918A>G	c.(1918-1920)Aac>Gac	p.N640D	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.N953D|DGKI_ENST00000424189.2_Missense_Mutation_p.N984D|DGKI_ENST00000288490.5_Missense_Mutation_p.N971D			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	971					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCTCCCCGTTGCCGGTTTTA	0.428000													5	99					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2867170	2867170	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:2867170G>A	ENST00000254695.8	+	7	390	c.300G>A	c.(298-300)ccG>ccA	p.P100P	RAP1GAP2_ENST00000540393.2_Silent_p.P81P|RAP1GAP2_ENST00000366401.4_Silent_p.P85P|RAP1GAP2_ENST00000542807.1_Silent_p.P100P|CTD-3060P21.1_ENST00000574885.1_RNA	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	100					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	p.P100P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						AGGGAGGCCCGTACCCTCAGG	0.672000													5	24					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960813	73960813	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:73960813C>G	ENST00000373468.1	-	3	4230	c.3579G>C	c.(3577-3579)caG>caC	p.Q1193H	KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q1193H			Q5QGS0	K2022_HUMAN	KIAA2022	1193					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase 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						TGGTGTTTTTCTGAGAAGAGC	0.428000													10	97					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16957109	16957109	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:16957109T>C	ENST00000377833.4	-	47	7338	c.7273A>G	c.(7273-7275)Act>Gct	p.T2425A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2425	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCACAGCAGTATTGCTAGAA	0.428000													9	90					0	0	1	0	0
CBWD3	445571	broad.mit.edu	37	9	70871839	70871839	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:70871839G>A	ENST00000360171.6	+	5	984	c.433G>A	c.(433-435)Gca>Aca	p.A145T	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	145							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ATTTTCACGTGCAGTGGCTTC	0.284000													14	260					0	0	1	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146171	10146171	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:10146171G>A	ENST00000450660.2	-	2	504	c.288C>T	c.(286-288)ctC>ctT	p.L96L	FANCD2OS_ENST00000524279.1_Silent_p.L96L	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		CTACTCCACTGAGGCGGATGG	0.517000													6	90					0	0	1	0	0
RMDN1	51115	broad.mit.edu	37	8	87498871	87498871	+	Splice_Site	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:87498871C>T	ENST00000406452.3	-	4	496	c.335_splice	c.e4-1	p.E113_splice	CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Splice_Site_p.E69_splice|RMDN1_ENST00000519966.1_Splice_Site_p.E113_splice|RMDN1_ENST00000430676.2_Splice_Site_p.E113_splice	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		TCTGCATCTTCACTAATTTGA	0.368000													5	38					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751359	140751359	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140751359G>A	ENST00000576222.1	+	1	1529	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAATCCGCCTGGAGCCT	0.577000													14	122					0	0	1	0	0
RASA4CP	401331	broad.mit.edu	37	7	44076350	44076350	+	RNA	SNP	T	T	C	rs28378571	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:44076350T>C	ENST00000446874.1	-	0	202																											GCTGCCAAAGTTCTTTTCCTC	0.617000													6	73					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249137	71249137	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:71249137C>T	ENST00000398534.3	+	1	67	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	12						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGTGGCTCCGGCTGTGGGG	0.647000													16	132					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160932113	160932113	+	RNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:160932113G>A	ENST00000335388.5	-	0	43					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GAGAGTAAACGCATCCACAAA	0.438000													12	109					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767536	148767536	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:148767536C>G	ENST00000316286.9	-	3	2342	c.2070G>C	c.(2068-2070)atG>atC	p.M690I	ZNF786_ENST00000451334.3_Missense_Mutation_p.M739I|ZNF786_ENST00000491431.1_Missense_Mutation_p.M776I			Q8N393	ZN786_HUMAN	zinc finger protein 786	776					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)			CGGCCTCTATCATTGCAAACA	0.498000													20	262					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48319088	48319088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:48319088G>A	ENST00000376876.3	-	13	1858	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	SLC38A5_ENST00000317669.5_Missense_Mutation_p.R339C|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.R288C			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	339					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACGGCCAGGCGCACACAGAGG	0.632000													9	48					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182873548	182873548	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:182873548C>G	ENST00000367547.3	-	8	1590	c.1354G>C	c.(1354-1356)Gaa>Caa	p.E452Q	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E333Q	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	524										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATCATAATTTCCTCTCTCTTT	0.363000													7	77					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11978597	11978597	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:11978597G>C	ENST00000304030.2	+	3	913	c.713G>C	c.(712-714)gGa>gCa	p.G238A	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.G102A	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACTCACACTGGAGAGAAACCG	0.368000													16	132					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	437477	437477	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:437477G>A	ENST00000338977.5	-	2	791	c.743C>T	c.(742-744)tCa>tTa	p.S248L	ZNF721_ENST00000511833.2_Missense_Mutation_p.S260L|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCTTGAGGATGAGGAAATGAC	0.378000													4	57					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3778902	3778902	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:3778902G>T	ENST00000262367.5	-	31	6955	c.6146C>A	c.(6145-6147)gCt>gAt	p.A2049D	CREBBP_ENST00000382070.3_Missense_Mutation_p.A2011D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2049					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|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)		CCGGGGCCCAGCCACGGCCGC	0.701000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	24					0.000602214	0.000622628	1	1	0
CPT1A	1374	broad.mit.edu	37	11	68549278	68549278	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68549278C>T	ENST00000265641.5	-	11	1467	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	CPT1A_ENST00000540367.1_Missense_Mutation_p.S438N|CPT1A_ENST00000539743.1_Missense_Mutation_p.S438N|CPT1A_ENST00000376618.2_Missense_Mutation_p.S438N	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	438					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TTTGGCGTAGCTGTCCATTGA	0.478000													9	182					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21333198	21333198	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:21333198G>A	ENST00000359039.4	-	1	2181	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F	KLHL9_ENST00000537938.1_Missense_Mutation_p.S486F			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	554					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTATTCCAAGAATATCCACC	0.408000													8	140					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	C	rs28392876	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													3	8					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39735313	39735313	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:39735313C>G	ENST00000395670.3	-	14	2334	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	KIF21A_ENST00000361961.3_Missense_Mutation_p.E626Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.E626Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.E639Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.E626Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	639					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)				GTACCTTTTTCATCTGATTCA	0.383000													11	56					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48706964	48706964	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:48706964T>A	ENST00000314191.2	-	75	10610	c.10554A>T	c.(10552-10554)gaA>gaT	p.E3518D	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E3518D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3519	FAT.				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			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)				CAGTGATTTCTTCCACAGAGT	0.468000								Non-homologous end-joining					4	39					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40754430	40754430	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:40754430T>C	ENST00000561234.1	+	3	2008	c.1749T>C	c.(1747-1749)cgT>cgC	p.R583R	BAHD1_ENST00000560846.1_Silent_p.R584R|BAHD1_ENST00000416165.1_Silent_p.R584R			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	584	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCGCCGCCGTCGCCGCCGCA	0.652000													18	103					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64017534	64017534	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:64017534C>T	ENST00000443617.2	-	18	3612	c.3525G>A	c.(3523-3525)acG>acA	p.T1175T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1175					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAACAGTGGCGTTTTCATCC	0.473000													4	48					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68846367	68846367	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68846367A>G	ENST00000294309.3	+	16	1519	c.1418A>G	c.(1417-1419)aAc>aGc	p.N473S	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.N473S	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	473					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGATTCTCAACTGCGTCTTC	0.597000													4	65					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51917032	51917032	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:51917032C>T	ENST00000353836.5	-	9	1691	c.1470G>A	c.(1468-1470)agG>agA	p.R490R	SIGLEC10_ENST00000441969.3_Silent_p.R432R|SIGLEC10_ENST00000339313.5_Silent_p.R585R|SIGLEC10_ENST00000436984.2_Silent_p.R442R|SIGLEC10_ENST00000442846.3_Silent_p.R342R|SIGLEC10_ENST00000525998.1_Silent_p.R400R|SIGLEC10_ENST00000439889.2_Silent_p.R527R|SIGLEC10_ENST00000356298.5_Silent_p.R585R|SIGLEC10_ENST00000432469.2_Silent_p.R407R	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	585					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAACCTGGGCCTCGGGGTTT	0.567000													7	94					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064475	7064475	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:7064475C>T	ENST00000299481.4	+	4	1564	c.1218C>T	c.(1216-1218)agC>agT	p.S406S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	406	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATATTTCTAGCTTGTTCACAC	0.493000													13	157					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43940128	43940128	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:43940128G>A	ENST00000396879.1	-	3	244	c.132C>T	c.(130-132)atC>atT	p.I44I	CATSPER2_ENST00000381761.1_Silent_p.I50I|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Silent_p.I44I|CATSPER2_ENST00000321596.5_Silent_p.I44I|CATSPER2_ENST00000354127.4_Silent_p.I44I|CATSPER2_ENST00000464721.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	44					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAACTCCCTGATAGTGTGCC	0.453000													7	152					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67993105	67993105	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:67993105G>A	ENST00000397942.3	+	2	1517	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	SOCS6_ENST00000582322.1_Missense_Mutation_p.V401M	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	401	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCTAGCAAACGTGCCAGATGG	0.473000													11	90					0	0	1	0	0
PRH2	5555	broad.mit.edu	37	12	11083308	11083308	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11083308C>A	ENST00000396400.3	+	3	186	c.148C>A	c.(148-150)Cct>Act	p.P50T	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.P50T	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	50						extracellular space	protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TCAGGGACCACCTTTGGGAGG	0.547000													12	175					6.40141e-05	6.81477e-05	1	1	0
LIG4	3981	broad.mit.edu	37	13	108861664	108861664	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:108861664G>A	ENST00000356922.4	-	2	2225	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	LIG4_ENST00000442234.1_Silent_p.N651N|LIG4_ENST00000405925.1_Silent_p.N651N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	651					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTGTTAACGTTAGTAAGGT	0.373000								Non-homologous end-joining					12	80					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47231911	47231911	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:47231911G>A	ENST00000391910.3	-	7	1453	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	STRN4_ENST00000263280.6_Missense_Mutation_p.R335W|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.R216W			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	335						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTGCACCGCCGAGGGTCTGGA	0.612000													4	54					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148855055	148855055	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:148855055G>A	ENST00000367467.3	+	15	2358	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	628							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGGAGGCGTCGGAAAGGACGA	0.537000													10	108					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83456014	83456014	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83456014C>A	ENST00000334574.8	-	2	310	c.129G>T	c.(127-129)atG>atT	p.M43I	FSD2_ENST00000541889.1_Missense_Mutation_p.M43I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	43										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTACTTTCCTCATCCTAGTGT	0.483000													15	145					0.000308642	0.000324047	1	1	0
CLMN	79789	broad.mit.edu	37	14	95670573	95670573	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:95670573C>T	ENST00000298912.4	-	9	1226	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	371						integral to membrane	actin binding	p.A371A(1)		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)		TGTCTGACAGCGCATGGCTGG	0.542000													10	88					0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175742857	175742857	+	Splice_Site	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:175742857C>T	ENST00000409900.3	-	6	574		c.e6-1		CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Splice_Site	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ACTTCCAAATCTGCCTCAATG	0.378000			T	TAF15	extraskeletal myxoid chondrosarcoma								3	28					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34912527	34912527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:34912527C>T	ENST00000246535.3	+	6	948	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	301						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATTTGAGTTTCAGCTTATGCC	0.453000													16	145					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267621	124267621	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:124267621T>C	ENST00000395571.3	-	3	1183	c.566A>G	c.(565-567)aAt>aGt	p.N189S	ZHX1_ENST00000297857.2_Missense_Mutation_p.N189S|ZHX1_ENST00000522655.1_Missense_Mutation_p.N189S|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	189					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCACTTTATTTTTCATCAT	0.353000													13	132					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922297	37922297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:37922297C>T	ENST00000346872.3	-	8	1337	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	IKZF3_ENST00000377945.3_Missense_Mutation_p.E292K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E205K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E339K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E387K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E387K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E348K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E331K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E283K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E244K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E179K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E392K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E370K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E353K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	426					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)			TTGAGGAGTTCGTAAGAGCGG	0.552000													13	149					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82575356	82575356	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:82575356G>T	ENST00000339465.5	+	3	1219	c.1150G>T	c.(1150-1152)Ggt>Tgt	p.G384C	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.G369C	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	384										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AAATTCCCAAGGTCATAAATT	0.403000													5	74					0.014758	0.0149293	1	1	0
FBN3	84467	broad.mit.edu	37	19	8181655	8181655	+	Silent	SNP	G	G	A	rs138173924	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:8181655G>A	ENST00000600128.1	-	29	4029	c.3615C>T	c.(3613-3615)cgC>cgT	p.R1205R	FBN3_ENST00000270509.2_Silent_p.R1205R|FBN3_ENST00000601739.1_Silent_p.R1205R			Q75N90	FBN3_HUMAN	fibrillin 3	1205	EGF-like 17.					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						GGTCACAAACGCGGGGGTTCT	0.592000													5	78					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42655054	42655054	+	Missense_Mutation	SNP	G	G	A	rs61753350		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:42655054G>A	ENST00000372572.1	-	12	1684	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V	FOXJ3_ENST00000372573.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A424V|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000372571.1_5'UTR|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A458V	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	458					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCAAGTGTCGCATACCAATC	0.403000													4	37					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513534	75513534	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75513534C>G	ENST00000332272.4	-	3	372	c.193G>C	c.(193-195)Gac>Cac	p.D65H	CHST6_ENST00000390664.2_Missense_Mutation_p.D65H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	65					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAGAAGACGTCGGGGTGCTGG	0.687000													4	43					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74520797	74520797	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:74520797C>T	ENST00000437994.2	+	28	4060	c.3629C>T	c.(3628-3630)aCg>aTg	p.T1210M	CD109_ENST00000422508.2_Missense_Mutation_p.T1133M|CD109_ENST00000287097.5_Missense_Mutation_p.T1210M	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1210						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGACCGTGACGGGGCCTAGC	0.458000													8	81					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156617318	156617318	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156617318G>A	ENST00000329117.4	+	4	821	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R162Q	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	162	Link 1.				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)					TTTCTCTACCGAGAGGGCTCT	0.652000													6	41					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160494801	160494801	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:160494801G>A	ENST00000356956.1	+	35	5108	c.4960G>A	c.(4960-4962)Gtg>Atg	p.V1654M		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1654					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGAATGTTCCGTGAGGAATGG	0.403000													6	46					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379412	121379412	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:121379412C>G	ENST00000297848.3	+	46	5350	c.5080C>G	c.(5080-5082)Cta>Gta	p.L1694V	COL14A1_ENST00000309791.4_Missense_Mutation_p.L1694V|COL14A1_ENST00000247781.3_Missense_Mutation_p.L1599V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1694	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ttaaaCAGGTCTAACTGGTAT	0.383000													5	41					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33017343	33017343	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:33017343A>G	ENST00000357505.6	-	7	1390	c.1286T>C	c.(1285-1287)aTa>aCa	p.I429T	N4BP2L2_ENST00000504114.1_Missense_Mutation_p.I429T|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.I444T|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	100										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTCATTTCCTATCAGTAGTTT	0.418000													10	52					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731194	140731194	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140731194A>G	ENST00000523390.1	+	1	1367	c.1367A>G	c.(1366-1368)cAc>cGc	p.H456R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGTGGTCCACGTGTCTGAG	0.562000													5	63					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75471362	75471362	+	RNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:75471362G>A	ENST00000459803.1	-	0	1779					NR_024241.1																						GAGTGTCAGGGCAAACCCTTT	0.587000													4	17					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33269223	33269223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:33269223G>A	ENST00000269195.5	+	6	1050	c.947G>A	c.(946-948)tGg>tAg	p.W316*	GALNT1_ENST00000537549.1_Nonsense_Mutation_p.W256*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	316	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATGGATATTTGGGGAGGAGAA	0.333000													7	81					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72799729	72799729	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:72799729G>A	ENST00000325599.8	-	11	1579	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Silent_p.L452L	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	480	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GACTATCTTTGAGTTCATCTT	0.468000													7	111					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4843461	4843461	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:4843461C>T	ENST00000379333.1	-	14	1841	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	SLC23A2_ENST00000338244.1_Silent_p.P483P|SLC23A2_ENST00000424750.2_Silent_p.P369P	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	483					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACAGGATCCGGAAGGGACG	0.557000													11	67					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856884	54856884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:54856884G>A	ENST00000333896.5	+	13	2959	c.2574G>A	c.(2572-2574)tgG>tgA	p.W858*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.W871*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	871					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGAGCAGTGGCTCAACAACA	0.602000													7	36					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39734617	39734617	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:39734617G>A	ENST00000341749.3	+	1	122	c.19G>A	c.(19-21)Gag>Aag	p.E7K	CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000553728.1_Intron	NM_203354.2	NP_976229.1	O15320	CTGE5_HUMAN	CTAGE family, member 5	0							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GAAAAGTCCAGAGGAAGAGGT	0.343000													3	32					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187530965	187530965	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:187530965G>A	ENST00000441802.2	-	15	10267	c.10058C>T	c.(10057-10059)tCt>tTt	p.S3353F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3353	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGATGACAGACTGCTCAAG	0.393000										HNSCC(5;0.00058)			7	24					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161993108	161993108	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:161993108G>A	ENST00000294794.3	-	1	536	c.113C>T	c.(112-114)gCg>gTg	p.A38V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A38V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	38										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCCGCAGGCGCCACTGTCTG	0.597000													8	63					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30094365	30094365	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:30094365G>A	ENST00000449726.1	+	8	1187	c.837G>A	c.(835-837)ctG>ctA	p.L279L	PLEKHA8_ENST00000258679.7_Silent_p.L279L|PLEKHA8_ENST00000396259.1_Silent_p.L279L|PLEKHA8_ENST00000396257.2_Silent_p.L279L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	279					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TGGAAAACCTGAAAAATCATG	0.343000													19	101					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409661	130409661	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:130409661C>T	ENST00000370904.1	-	22	3858	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.R983Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R992Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R997Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	992	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GACCGGCCCTCGGCACCAGAG	0.522000													16	162					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113318368	113318368	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:113318368C>A	ENST00000297405.5	-	51	8183	c.7939G>T	c.(7939-7941)Gac>Tac	p.D2647Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D2607Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D2577Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2543Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2647	Sushi 15.					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						ACCAAATAGTCTGTTGTTAGT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	67					0.00909568	0.00924727	1	1	0
POMGNT1	55624	broad.mit.edu	37	1	46655573	46655573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:46655573G>A	ENST00000371992.1	-	20	2388	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	POMGNT1_ENST00000371984.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000535522.1_Nonsense_Mutation_p.R558*	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	580					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TTCTCCATTCGAATAAAGGCC	0.547000													4	33					0	0	1	0	0
TAF9B	51616	broad.mit.edu	37	X	77395061	77395061	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:77395061G>T	ENST00000341864.5	-	1	142	c.48C>A	c.(46-48)gcC>gcA	p.A16A		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	16					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CACTTACCAAGGCATCTCTCG	0.657000													10	154					7.48243e-07	8.13597e-07	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228883163	228883163	+	Missense_Mutation	SNP	C	C	A	rs146520315	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:228883163C>A	ENST00000392056.3	-	7	2453	c.2407G>T	c.(2407-2409)Ggc>Tgc	p.G803C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G803C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	803						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGAAGAGGCCTGGCCTCACT	0.463000													20	147					1.28384e-07	1.40097e-07	1	1	0
NOL4	8715	broad.mit.edu	37	18	31538274	31538274	+	Missense_Mutation	SNP	C	C	T	rs137958344		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:31538274C>T	ENST00000261592.5	-	7	1462	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	NOL4_ENST00000538587.1_Missense_Mutation_p.E315K|NOL4_ENST00000589544.1_Missense_Mutation_p.E389K|NOL4_ENST00000535384.1_Missense_Mutation_p.E104K|NOL4_ENST00000535475.1_Missense_Mutation_p.E234K|NOL4_ENST00000269185.4_Missense_Mutation_p.E275K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	389						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCATGGTCCTCGTGGTCATCT	0.498000													13	154					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120636	47120636	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:47120636T>C	ENST00000298283.3	-	1	392	c.304A>G	c.(304-306)Atg>Gtg	p.M102V		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	102					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CAGGACAACATCTTGTTGATG	0.527000													6	77					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686499	54686499	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54686499C>T	ENST00000540264.2	-	2	1290	c.781G>A	c.(781-783)Gag>Aag	p.E261K	NFE2_ENST00000435572.2_Missense_Mutation_p.E261K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.E261K|NFE2_ENST00000553070.1_Missense_Mutation_p.E261K			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	261					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGCTGGCTCTCTGTCAGCGGG	0.542000													4	49					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10893656	10893656	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:10893656C>T	ENST00000314646.5	+	6	873	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	DNM2_ENST00000585892.1_Missense_Mutation_p.R237C|DNM2_ENST00000359692.6_Missense_Mutation_p.R237C|DNM2_ENST00000389253.4_Missense_Mutation_p.R237C|DNM2_ENST00000355667.6_Missense_Mutation_p.R237C|DNM2_ENST00000408974.4_Missense_Mutation_p.R237C			P50570	DYN2_HUMAN	dynamin 2	237					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGTGGTGAACCGCAGCCAGAA	0.597000			"""F, N, Splice, Mis, O"""		ETP ALL								9	49					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124397074	124397074	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:124397074C>T	ENST00000360013.3	+	50	7358	c.7231C>T	c.(7231-7233)Cgg>Tgg	p.R2411W	KALRN_ENST00000428018.2_Missense_Mutation_p.R682W|KALRN_ENST00000462213.1_Missense_Mutation_p.R28W|KALRN_ENST00000291478.4_Missense_Mutation_p.R714W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2410					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATGAGAAAGCGGGCGGAAGT	0.483000													23	119					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851591	43851591	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:43851591G>C	ENST00000372769.3	+	2	1408	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	440	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCAAACTGAAGAGAAAATACA	0.378000													11	111					0	0	1	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593422	45593422	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:45593422G>A	ENST00000270257.4	+	3	297	c.50G>A	c.(49-51)gGc>gAc	p.G17D	CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.G17D|GEMIN7_ENST00000391951.2_Missense_Mutation_p.G17D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.G17D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	17					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CTGCCCCGGGGCCCTGATGGC	0.557000													8	153					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46717606	46717606	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:46717606C>T	ENST00000311956.4	-	2	149	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	18					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TTCAGAGCCTCGCTGGTGTCA	0.562000													5	20					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120442176	120442176	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:120442176G>A	ENST00000354960.3	-	13	2138	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.R565W|PDE5A_ENST00000394439.1_Missense_Mutation_p.R555W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	607	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACATTCTTCCGATAATTCTTC	0.348000													10	133					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130782325	130782325	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:130782325C>T	ENST00000509018.1	-	22	3477	c.3272G>A	c.(3271-3273)cGc>cAc	p.R1091H	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1099H|FNIP1_ENST00000514667.1_Missense_Mutation_p.R1141H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R1091H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R814H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1104H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1099H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1091					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGAGCTGCGGCGTGCCCTTTT	0.453000													9	125					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881385	228881385	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:228881385G>A	ENST00000392056.3	-	7	4231	c.4185C>T	c.(4183-4185)aaC>aaT	p.N1395N	SPHKAP_ENST00000344657.5_Silent_p.N1395N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1395						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGGGCTGTGGTTTGTAAGAG	0.463000													25	135					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69103989	69103989	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:69103989C>G	ENST00000288368.4	+	36	4656	c.4379C>G	c.(4378-4380)cCa>cGa	p.P1460R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1460					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.P1460Q(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATTCACCACCAAACTCCACA	0.313000													6	48					0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31033023	31033023	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:31033023A>G	ENST00000343605.4	+	1	1385	c.586A>G	c.(586-588)Acc>Gcc	p.T196A	SLC35E4_ENST00000406566.1_Missense_Mutation_p.T196A|SLC35E4_ENST00000300385.8_Missense_Mutation_p.T196A	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	196	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTCGCAGCCACCTGCCTCCG	0.667000													7	43					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31137576	31137576	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:31137576C>A	ENST00000538351.1	-	7	2365	c.1611G>T	c.(1609-1611)ctG>ctT	p.L537L	ZNF438_ENST00000361310.3_Silent_p.L586L|ZNF438_ENST00000436087.2_Silent_p.L586L|ZNF438_ENST00000375311.1_Silent_p.L150L|ZNF438_ENST00000452305.1_Silent_p.L576L|ZNF438_ENST00000413025.1_Silent_p.L586L|ZNF438_ENST00000331737.6_Silent_p.L576L|ZNF438_ENST00000444692.2_Silent_p.L576L|ZNF438_ENST00000442986.1_Silent_p.L586L	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCACTTCTTTCAGATGGCCAA	0.478000													12	105					0.000219431	0.00023118	1	1	0
SIGLEC11	114132	broad.mit.edu	37	19	50462016	50462016	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:50462016G>A	ENST00000447370.2	-	7	1337	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S416L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	416	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCCGGGGTCTGAGGGCTGGGA	0.677000													12	73					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27684340	27684340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:27684340C>T	ENST00000260570.3	-	22	2341	c.2238G>A	c.(2236-2238)tgG>tgA	p.W746*		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	746					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCCATCAGCCACTGGTAGT	0.582000													9	115					0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408585	17408585	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:17408585C>T	ENST00000339994.4	-	1	1621	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	KCNJ11_ENST00000528731.1_Missense_Mutation_p.D265N	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	265						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		AGGCTGTGGTCCTCATCAAGC	0.622000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	79					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216030	111216030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:111216030C>T	ENST00000369769.2	-	1	1625	c.1402G>A	c.(1402-1404)Ggt>Agt	p.G468S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	468						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G468S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCAAGACACCGGCGATGGCA	0.527000													9	52					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16694554	16694554	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:16694554G>A	ENST00000513610.1	-	27	4180	c.3726C>T	c.(3724-3726)cgC>cgT	p.R1242R	MYO10_ENST00000505695.1_Silent_p.R581R|MYO10_ENST00000427430.2_Silent_p.R599R|MYO10_ENST00000515803.1_Silent_p.R581R|MYO10_ENST00000274203.9_Silent_p.R599R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTGGACTGGCGGAGGACAA	0.572000													14	149					0	0	1	0	0
IGLV1-50	28821	broad.mit.edu	37	22	22681967	22681967	+	RNA	SNP	C	C	T	rs140594791	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:22681967C>T	ENST00000390291.2	+	0	200																											AACATTGGGGCGGGTTATGTT	0.602000													19	183					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38202364	38202364	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:38202364G>A	ENST00000407257.1	+	4	1318	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	RMDN2_ENST00000354545.2_Missense_Mutation_p.E213K|RMDN2_ENST00000234195.3_Missense_Mutation_p.E391K|RMDN2_ENST00000406384.1_Missense_Mutation_p.E213K|RMDN2_ENST00000417700.2_Missense_Mutation_p.E68K|RMDN2-AS1_ENST00000414365.2_RNA					regulator of microtubule dynamics 2																		GTTTAGAGATGAAATAGAGTT	0.318000													5	44					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77624217	77624217	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:77624217G>A	ENST00000316249.3	+	1	550	c.550G>A	c.(550-552)Gtg>Atg	p.V184M		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	184					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGCGTGTCCGTGTCCTTCGT	0.766000													3	16					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886563	6886563	+	Nonsense_Mutation	SNP	G	G	A	rs61731925		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:6886563G>A	ENST00000203629.2	+	6	1524	c.1191G>A	c.(1189-1191)tgG>tgA	p.W397*		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	397	Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGACCTTGGCTGGAGGCAC	0.572000													9	76					0	0	1	0	0
TMEM147	10430	broad.mit.edu	37	19	36037660	36037660	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:36037660G>C	ENST00000392204.2	+	3	475	c.147G>C	c.(145-147)aaG>aaC	p.K49N	TMEM147_ENST00000392205.1_Missense_Mutation_p.K98N|TMEM147_ENST00000222284.5_Missense_Mutation_p.K98N	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	98						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			GAGAGTACAAGATCATGGTTG	0.582000													4	67					0	0	1	0	0
LBX2	85474	broad.mit.edu	37	2	74725408	74725408	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74725408G>A	ENST00000341396.2	-	2	186	c.62C>T	c.(61-63)tCg>tTg	p.S21L	LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Silent_p.F77F|LBX2_ENST00000377566.4_Silent_p.F81F			Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTTTGCGGCCGAAGGGACCAG	0.667000													3	26					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11872838	11872838	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:11872838G>C	ENST00000262442.3	+	69	13523	c.13455G>C	c.(13453-13455)caG>caC	p.Q4485H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4409H|DNAH9_ENST00000396001.2_Missense_Mutation_p.Q797H|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4485					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTTCTCCAGATTTAGCATC	0.527000													5	16					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15374334	15374334	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:15374334C>T	ENST00000263377.2	-	7	1459	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	BRD4_ENST00000371835.4_Missense_Mutation_p.R413H|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.R413H	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	413	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTGAGCATCACGGTACTCACG	0.537000			T	C15orf55	lethal midline carcinoma of young people								5	50					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299367	58299367	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:58299367G>C	ENST00000377918.3	+	4	3445	c.3419G>C	c.(3418-3420)aGa>aCa	p.R1140T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1140					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAAGTTGTGAGAGAAATTGAT	0.488000													11	215					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172642075	172642075	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:172642075C>G	ENST00000351008.3	-	8	1444	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	421					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCACTGTATCTTCTCTGGTC	0.328000													4	69					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734553	12734553	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:12734553G>A	ENST00000380682.1	+	15	2481	c.1975G>A	c.(1975-1977)Gcc>Acc	p.A659T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	659					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGAGACTTCGCCTTGGATGA	0.483000													26	241					0	0	1	0	0
AGPAT2	10555	broad.mit.edu	37	9	139571495	139571495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:139571495C>T	ENST00000371696.2	-	3	475	c.410G>A	c.(409-411)gGc>gAc	p.G137D	AGPAT2_ENST00000538402.1_Missense_Mutation_p.G137D|AGPAT2_ENST00000371694.3_Missense_Mutation_p.G137D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	137					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAAGAAGACGCCCCCGAGGTA	0.657000													11	108					0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4112527	4112527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:4112527C>T	ENST00000527651.1	+	13	1683	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*	STIM1_ENST00000533977.1_Silent_p.S346S|STIM1_ENST00000300737.4_Silent_p.S519S	NM_001277962.1	NP_001264891.1	Q13586	STIM1_HUMAN	stromal interaction molecule 1	532					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)		TGACCCATTCCGATTCGGAGT	0.552000													6	107					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35062342	35062342	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35062342C>G	ENST00000358901.6	-	8	1712	c.817G>C	c.(817-819)Gag>Cag	p.E273Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	273					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCATGATCTCAGGACCTGAA	0.443000													5	66					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146896	111146896	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:111146896A>G	ENST00000485317.1	-	3	1182	c.509T>C	c.(508-510)gTc>gCc	p.V170A	KCNA2_ENST00000369770.3_Missense_Mutation_p.V170A|KCNA2_ENST00000316361.4_Missense_Mutation_p.V170A|KCNA2_ENST00000440270.1_Missense_Mutation_p.V170A|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	170						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AATCACCATGACAGACACAAT	0.483000													15	80					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47906074	47906074	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:47906074C>G	ENST00000289672.2	-	25	4085	c.4035G>C	c.(4033-4035)tgG>tgC	p.W1345C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1345	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTATTCGTGACCATTGGTTGC	0.433000													11	121					0	0	1	0	0
AMT	275	broad.mit.edu	37	3	49455119	49455119	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:49455119G>A	ENST00000273588.3	-	9	1368	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	AMT_ENST00000538581.1_Silent_p.L300L|AMT_ENST00000546031.1_Silent_p.L259L|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000395338.2_Silent_p.L356L|AMT_ENST00000458307.2_Silent_p.L312L	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	356					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TTCTTCTTCAGAGAGGGGGAG	0.592000													15	115					0	0	1	0	0
ADI1	55256	broad.mit.edu	37	2	3504681	3504681	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:3504681C>T	ENST00000382093.5	-	3	3143	c.306G>A	c.(304-306)agG>agA	p.R102R	ADI1_ENST00000327435.6_Silent_p.R108R			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	108					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCTCCTTGTCCCTCACATCGA	0.542000													4	37					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57839434	57839434	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:57839434G>A	ENST00000321545.4	+	4	949	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		CTATAAATGTGAGGAATGCGG	0.413000													7	128					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173380196	173380196	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:173380196C>T	ENST00000265085.5	+	9	3337	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	CPEB4_ENST00000520867.1_Missense_Mutation_p.A603V|CPEB4_ENST00000517880.1_Missense_Mutation_p.A221V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A611V|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000519835.1_Missense_Mutation_p.A603V|CPEB4_ENST00000522336.1_Missense_Mutation_p.A238V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	628	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGAGAGTTGCGTTCTCTAAT	0.463000													8	131					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75282867	75282867	+	Silent	SNP	G	G	A	rs147936395		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:75282867G>A	ENST00000524558.1	+	5	2431	c.996G>A	c.(994-996)aaG>aaA	p.K332K	SERPINH1_ENST00000525876.1_Silent_p.K115K|SERPINH1_ENST00000533603.1_Silent_p.K332K|SERPINH1_ENST00000358171.3_Silent_p.K332K			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	332					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCATTGACAAGAACAAGGCCG	0.602000													5	37					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118352585	118352585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:118352585C>T	ENST00000534358.1	+	7	3813	c.3790C>T	c.(3790-3792)Cga>Tga	p.R1264*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1264*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R1264*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GCCTCCTCCACGAAAGCCCGT	0.542000													6	73					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4088250	4088250	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:4088250G>A	ENST00000341657.4	-	12	1597	c.1562C>T	c.(1561-1563)aCg>aTg	p.T521M	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.T521M|ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000570535.1_Missense_Mutation_p.T563M	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	521						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGCTTCCTCCGTCTGCAGGTT	0.622000													6	59					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193008	139193008	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:139193008C>T	ENST00000274710.3	+	3	691	c.486C>T	c.(484-486)gaC>gaT	p.D162D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	162					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCCTAGACGGGCTGAGCC	0.657000													5	69					0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50017242	50017242	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:50017242G>C	ENST00000221466.5	+	3	663	c.177G>C	c.(175-177)ctG>ctC	p.L59L	FCGRT_ENST00000596975.1_Silent_p.L59L|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Silent_p.L59L	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	59	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AGCAGTACCTGAGCTACAATA	0.642000													9	82					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52824378	52824378	+	Missense_Mutation	SNP	C	C	T	rs143629874		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:52824378C>T	ENST00000252245.5	-	5	1202	c.982G>A	c.(982-984)Gag>Aag	p.E328K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	328	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCAATGTCCTCGTATTGTGCT	0.572000													7	175					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27874901	27874901	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:27874901G>A	ENST00000374011.2	-	6	4694	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	AHDC1_ENST00000247087.5_Silent_p.F1242F|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1242							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGAGGCCTCGAACAGGTCCA	0.652000													4	54					0	0	1	0	0
CHAC2	494143	broad.mit.edu	37	2	53995077	53995077	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:53995077G>C	ENST00000295304.4	+	1	149	c.54G>C	c.(52-54)caG>caC	p.Q18H	GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000482829.1_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	18										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCCCTATCAGGACAAGCTGG	0.627000											OREG0014616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182350666	182350666	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:182350666G>A	ENST00000397033.2	+	10	1530	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	367					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATGCTGCAAGATTTGGGGAA	0.363000													18	107					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256838	140256838	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140256838T>C	ENST00000398631.2	+	1	1781	c.1781T>C	c.(1780-1782)gTg>gCg	p.V594A	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCGAAAGTGCGCGCGGTG	0.692000													10	93					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138874171	138874171	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:138874171C>A	ENST00000464848.1	+	18	1738	c.1658C>A	c.(1657-1659)tCc>tAc	p.S553Y	TTC26_ENST00000478836.2_Missense_Mutation_p.S446Y|TTC26_ENST00000495038.1_Missense_Mutation_p.S422Y|TTC26_ENST00000343187.4_Missense_Mutation_p.S522Y|TTC26_ENST00000430935.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	553							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AACAGAGTGTCCATCTAAAAT	0.428000													11	106					4.68919e-08	5.12617e-08	1	1	0
GAA	2548	broad.mit.edu	37	17	78081373	78081373	+	Missense_Mutation	SNP	C	C	T	rs121907944		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:78081373C>T	ENST00000302262.3	+	4	929	c.710C>T	c.(709-711)gCg>gTg	p.A237V	GAA_ENST00000390015.3_Missense_Mutation_p.A237V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	237			A -> V (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACGACGGTGGCGCCCCTGTTC	0.662000													7	125					0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130474913	130474913	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:130474913G>A	ENST00000373293.5	+	1	745	c.10G>A	c.(10-12)Gag>Aag	p.E4K	C9orf117_ENST00000373295.2_Intron|C9orf117_ENST00000464092.1_3'UTR			Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	0										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AATGGGCACTGAGGTTGGAAT	0.567000													5	17					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413477	65413477	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:65413477C>A	ENST00000519389.1	+	8	1707	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	HEPH_ENST00000374727.3_Missense_Mutation_p.L459M|HEPH_ENST00000441993.2_Missense_Mutation_p.L459M|HEPH_ENST00000343002.2_Missense_Mutation_p.L456M|HEPH_ENST00000419594.1_Missense_Mutation_p.L459M|HEPH_ENST00000336279.5_Missense_Mutation_p.L189M			Q9BQS7	HEPH_HUMAN	hephaestin	456	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTTGGAATCCTGGGTGAGGA	0.418000													8	37					1	1	1	1	0
PON3	5446	broad.mit.edu	37	7	94996775	94996775	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:94996775C>T	ENST00000265627.5	-	5	403	c.393G>A	c.(391-393)gtG>gtA	p.V131V	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.V131V	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GGGGATGATTCACAACATAAA	0.328000													6	101					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680128	6680128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:6680128delG	ENST00000377648.4	+	3	789	c.407delG	c.(406-408)agfs	p.R136fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	136					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|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;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGGGTACAGGGGGGGCTTG	0.602													13	51	---	---	---	---					
C1orf141	400757	broad.mit.edu	37	1	67592911	67592911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:67592911delT	ENST00000371007.2	-	3	122	c.13delA	c.(13-15)tcfs	p.I5fs	C1orf141_ENST00000371006.1_Frame_Shift_Del_p.I5fs|C1orf141_ENST00000544837.1_Frame_Shift_Del_p.I5fs	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	5										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTCTCTAGGATTTTTTCTGCC	0.313													8	125	---	---	---	---					
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:68171151delT	ENST00000370982.3	-	4	401	c.202delA	c.(202-204)ctfs	p.T68fs		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	68					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						ATGATGCAAGTTTTTTTATCC	0.438													16	96	---	---	---	---					
SYT6	148281	broad.mit.edu	37	1	114641761	114641761	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:114641761delT	ENST00000393296.1	-	5	1396	c.1319delA	c.(1318-1320)acfs	p.N440fs	SYT6_ENST00000369547.1_Frame_Shift_Del_p.N355fs			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	440	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		TTGATCCATGTTTTCCGGGGG	0.488													13	172	---	---	---	---					
NCF2	4688	broad.mit.edu	37	1	183543721	183543723	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:183543721_183543723delCTT	ENST00000367535.3	-	4	651_653	c.400_402delAAG	c.(400-402)del	p.K134del	NCF2_ENST00000367536.1_In_Frame_Del_p.K134del|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	134					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCCATTCCTCCTTCTTGGCATAC	0.448													13	139	---	---	---	---					
DYRK3	8444	broad.mit.edu	37	1	206821441	206821441	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:206821441delA	ENST00000367106.1	+	4	1311	c.838delA	c.(838-840)aafs	p.K281fs	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Frame_Shift_Del_p.K281fs|DYRK3_ENST00000367109.2_Frame_Shift_Del_p.K301fs			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	301	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGAGCTGATTAAAAAAAATAA	0.403													8	157	---	---	---	---					
ZNF124	7678	broad.mit.edu	37	1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:247319909delT	ENST00000340684.6	-	4	967	c.829delA	c.(829-831)ctfs	p.T277fs	ZNF124_ENST00000543802.2_Frame_Shift_Del_p.T339fs|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T277P(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CCAGTATGAGTTTTTTTATGC	0.368													9	61	---	---	---	---					
OR2L5	81466	broad.mit.edu	37	1	248185949	248185949	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:248185949delA	ENST00000355281.1	+	1	700	c.700delA	c.(700-702)aafs	p.K235fs	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1			olfactory receptor, family 2, subfamily L, member 5																		AGAAGGGAGGAAAAAGGCCTA	0.498													7	128	---	---	---	---					
ANKRD20A8P	729171	broad.mit.edu	37	2	95481129	95481129	+	RNA	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:95481129delG	ENST00000432432.2	-	0	2231					NR_040113.1																						TTCATTTCCTGTGTTTGCTGC	0.368													16	186	---	---	---	---					
NIFK	84365	broad.mit.edu	37	2	122485323	122485323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:122485323delT	ENST00000285814.4	-	7	931	c.859delA	c.(859-861)gafs	p.R289fs	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		289					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTCTTCGTCTTTTTTTCCGT	0.303													7	115	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148657041	148657041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:148657041delA	ENST00000241416.7	+	3	914	c.278delA	c.(277-279)gafs	p.E93fs	ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.E93fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	93					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GATTGTGTAGAAAAAAAAGAC	0.303													23	88	---	---	---	---					
COBLL1	22837	broad.mit.edu	37	2	165551296	165551296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:165551296delA	ENST00000375458.2	-	11	2827	c.2606delT	c.(2605-2607)tgfs	p.L869fs	COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000392717.2_Frame_Shift_Del_p.L945fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCATCTGCAAAAAAAAAGA	0.418													8	47	---	---	---	---					
HOXD8	3234	broad.mit.edu	37	2	176995417	176995417	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:176995417delC	ENST00000313173.4	+	1	950	c.323delC	c.(322-324)gcfs	p.A108fs	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.A108fs	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	108					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TACCAGGCCGccccccctcct	0.741													8	72	---	---	---	---					
TTLL3	26140	broad.mit.edu	37	3	9862377	9862377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:9862377delC	ENST00000383827.1	+	1	2322	c.41delC	c.(40-42)acfs	p.T14fs	TTLL3_ENST00000455274.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000426895.4_Frame_Shift_Del_p.T369fs|TTLL3_ENST00000547186.1_Frame_Shift_Del_p.T226fs|ARPC4-TTLL3_ENST00000397256.1_Frame_Shift_Del_p.T287fs|TTLL3_ENST00000430793.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000427853.3_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000397241.1_Frame_Shift_Del_p.T14fs			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	226					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CTGTACCTCACCCCCGAGGGC	0.602													12	77	---	---	---	---					
MB21D2	151963	broad.mit.edu	37	3	192517004	192517004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:192517004delT	ENST00000392452.2	-	2	967	c.647delA	c.(646-648)atfs	p.N216fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	216								p.N214fs*11(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATGGTCCCATTTTTTTCCAC	0.463													10	101	---	---	---	---					
ZNF721	170960	broad.mit.edu	37	4	436405	436406	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:436405_436406delCT	ENST00000338977.5	-	2	1862_1863	c.1814_1815delAG	c.(1813-1815)gfs	p.E605fs	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Frame_Shift_Del_p.E617fs					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CTTTGCCACACTCTTCACATTT	0.411													31	267	---	---	---	---					
HNRNPDL	9987	broad.mit.edu	37	4	83350506	83350506	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:83350506delG	ENST00000295470.5	-	1	513	c.338delC	c.(337-339)ctfs	p.P113fs	HNRNPDL_ENST00000349655.4_5'UTR|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.P113fs|HNRNPDL_ENST00000514511.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like									p.P113fs*11(1)									GCTGTCGGCAGGGGGGTGCTG	0.597													10	99	---	---	---	---					
DCHS2	54798	broad.mit.edu	37	4	155157144	155157144	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:155157144delA	ENST00000357232.3	-	25	7294	c.7295delT	c.(7294-7296)tcfs	p.F2432fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2432	Cadherin 22.				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)		TGGGAGGGTGAAAAAATACTG	0.438													7	92	---	---	---	---					
SLCO6A1	133482	broad.mit.edu	37	5	101794148	101794149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:101794148_101794149insA	ENST00000506729.1	-	6	1239_1240	c.1068_1069insT	c.(1066-1071)ttacagfs	p.LQ356fs	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Frame_Shift_Ins_p.LQ356fs|SLCO6A1_ENST00000389019.3_Frame_Shift_Ins_p.LQ294fs|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	356						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTCTGCTGTCAAAAAAATGAA	0.297													7	81	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)ccaattfs	p.I2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505													11	126	---	---	---	---					
ZBTB22	9278	broad.mit.edu	37	6	33283004	33283005	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:33283004_33283005delCA	ENST00000431845.2	-	2	1840_1841	c.1689_1690delTG	c.(1687-1692)tgagfs	p.CE563fs	ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.CE563fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGCCGGCGCTCACAGTGTCCTC	0.663													8	75	---	---	---	---					
ANKS1A	23294	broad.mit.edu	37	6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:34951143delC	ENST00000360359.3	+	7	1091	c.953delC	c.(952-954)acfs	p.T318fs	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	318						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGATAAAACCCCCCCACCC	0.418													10	98	---	---	---	---					
GJB7	375519	broad.mit.edu	37	6	87993980	87993980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:87993980delT	ENST00000525899.1	-	3	996	c.651delA	c.(649-651)aafs	p.K217fs	GJB7_ENST00000296882.3_Frame_Shift_Del_p.K217fs	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	217					cell communication	connexon complex|integral to membrane		p.K217fs*>7(1)		endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GGACTTGAGGTTTTTTTAAAT	0.413													7	82	---	---	---	---					
AHI1	54806	broad.mit.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)aaafs	p.K304fs	AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307													7	54	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157100397	157100399	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:157100397_157100399delCGC	ENST00000346085.5	+	1	1335_1337	c.1334_1336delCGC	c.(1333-1338)gcg>g	p.AP445del	ARID1B_ENST00000350026.5_In_Frame_Del_p.AP445del|ARID1B_ENST00000275248.4_In_Frame_Del_p.AP387del|ARID1B_ENST00000367148.1_In_Frame_Del_p.AP445del	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	445	Ala-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCCCCAGCGCGCCGCCGCCGCC	0.778													3	5	---	---	---	---					
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:158508009delC	ENST00000355585.4	+	23	3406	c.3331delC	c.(3331-3333)ccfs	p.P1114fs	SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1114	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCGCAGAGACCCCCCCCTCC	0.637													12	47	---	---	---	---					
TCP10	6953	broad.mit.edu	37	6	167791449	167791450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:167791449_167791450insG	ENST00000366827.2	-	4	621_622	c.410_411insC	c.(409-411)cccfs	p.P137fs	TCP10_ENST00000397829.4_Frame_Shift_Ins_p.P137fs			Q12799	TCP10_HUMAN	t-complex 10	164				D -> E (in Ref. 1; AAA82109 and 3; AAH63451).		cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCACCTTTGGAGGAGCTAAGTG	0.515													12	259	---	---	---	---					
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													7	15	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72297412	72297413	+	RNA	INS	-	-	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:72297412_72297413insA	ENST00000438125.1	-	0	234							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AATACTCTATTAAAAAAAATAA	0.322													14	89	---	---	---	---					
CYP51A1	1595	broad.mit.edu	37	7	91752493	91752494	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:91752493_91752494insT	ENST00000003100.8	-	7	1191_1192	c.1026_1027insA	c.(1024-1029)aagttafs	p.L343fs	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Ins_p.L238fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	337					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	TCTAAATAACATTTTTTTTGAA	0.396													16	152	---	---	---	---					
NUP205	23165	broad.mit.edu	37	7	135258404	135258404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:135258404delA	ENST00000285968.6	+	3	200	c.174delA	c.(172-174)ccfs	p.P58fs	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	58					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CATTGTAGCCAAAAAATGTTC	0.413													7	59	---	---	---	---					
RP1L1	94137	broad.mit.edu	37	8	10470757	10470757	+	Frame_Shift_Del	DEL	G	G	-	rs74594406	by1000genomes	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:10470757delG	ENST00000382483.3	-	4	1074	c.851delC	c.(850-852)cgfs	p.P284fs		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	284					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGGCCCACCGGGGGGTTGCT	0.662													8	122	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18490296	18490296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:18490296delT	ENST00000440756.2	-	11	2345	c.2243delA	c.(2242-2244)agfs	p.K748fs	PSD3_ENST00000286485.8_Frame_Shift_Del_p.K212fs|PSD3_ENST00000428502.2_Frame_Shift_Del_p.K75fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.K681fs|PSD3_ENST00000327040.8_Frame_Shift_Del_p.K746fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	747					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGAGGGAGACTTTTTTTTCTC	0.363													7	42	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798569	41798569	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:41798569delC	ENST00000396930.3	-	16	3373	c.2830delG	c.(2830-2832)ttfs	p.V944fs	KAT6A_ENST00000406337.1_Frame_Shift_Del_p.V944fs|KAT6A_ENST00000265713.2_Frame_Shift_Del_p.V944fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	944					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CAGGGCTCAACCCCCTCACTG	0.552													9	159	---	---	---	---					
ZDHHC16	84287	broad.mit.edu	37	10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-	rs146287872	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:99215505_99215507delAAG	ENST00000393760.1	+	10	1262_1264	c.913_915delAAG	c.(913-915)del	p.K306del	ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del|ZDHHC16_ENST00000370854.3_In_Frame_Del_p.K306del|ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del|ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	306					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCACATCAACAAGAAGGAGAGAC	0.532													11	136	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													13	4	---	---	---	---					
PITPNM1	9600	broad.mit.edu	37	11	67269818	67269818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:67269818delC	ENST00000356404.3	-	4	585	c.360delG	c.(358-360)ggfs	p.G120fs	PITPNM1_ENST00000534749.1_Frame_Shift_Del_p.G120fs|PITPNM1_ENST00000436757.2_Frame_Shift_Del_p.G120fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	120					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TTGGCTGCTGCCCCCCATCAG	0.607													7	71	---	---	---	---					
MOGAT2	80168	broad.mit.edu	37	11	75431143	75431143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:75431143delG	ENST00000198801.5	+	2	268	c.198delG	c.(196-198)cafs	p.Q66fs	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	66					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGCCACGGCAGGGGGGCCGGC	0.562													26	185	---	---	---	---					
FAT3	120114	broad.mit.edu	37	11	92533399	92533399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92533399delC	ENST00000298047.6	+	9	7237	c.7220delC	c.(7219-7221)gcfs	p.A2407fs	FAT3_ENST00000525166.1_Frame_Shift_Del_p.A2257fs|FAT3_ENST00000409404.2_Frame_Shift_Del_p.A2407fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2407	Cadherin 22.				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)				AGTGAATTAGCCCCCCGGGGC	0.443										TCGA Ovarian(4;0.039)			7	133	---	---	---	---					
TRPC6	7225	broad.mit.edu	37	11	101362286	101362287	+	Splice_Site	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:101362286_101362287insT	ENST00000344327.3	-	3	1552_1553		c.e3+1		TRPC6_ENST00000360497.4_Splice_Site|TRPC6_ENST00000532133.1_Splice_Site|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6						axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGACCTTACTTTTTTTACTT	0.396													14	177	---	---	---	---					
SORL1	6653	broad.mit.edu	37	11	121475905	121475905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:121475905delA	ENST00000260197.7	+	34	4864	c.4735delA	c.(4735-4737)aafs	p.K1580fs	SORL1_ENST00000532694.1_Frame_Shift_Del_p.K426fs|SORL1_ENST00000525532.1_Frame_Shift_Del_p.K524fs|SORL1_ENST00000534286.1_Frame_Shift_Del_p.K490fs|SORL1_ENST00000527934.1_Frame_Shift_Del_p.K195fs	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1580	Fibronectin type-III 1.				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)		GATGAGGCCCAAAAAAATGCC	0.438													9	102	---	---	---	---					
FOXM1	2305	broad.mit.edu	37	12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:2968088delG	ENST00000342628.2	-	10	2235	c.2122delC	c.(2122-2124)ttfs	p.L708fs	FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L670fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGATTCAAGGGGGGGAGCA	0.577													7	63	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													5	10	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aag>aa	p.NK230del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601													9	513	---	---	---	---					
PIK3C2G	5288	broad.mit.edu	37	12	18435201	18435202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:18435201_18435202insT	ENST00000433979.1	+	2	302_303	c.186_187insT	c.(184-189)acttttfs	p.TF62fs	PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.TF62fs|PIK3C2G_ENST00000266497.5_Frame_Shift_Ins_p.TF62fs|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.TF62fs	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	62					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGCC	0.406													11	75	---	---	---	---					
MED21	9412	broad.mit.edu	37	12	27181336	27181337	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:27181336_27181337delCA	ENST00000282892.3	+	4	407_408	c.377_378delCA	c.(376-378)gfs	p.A126fs	MED21_ENST00000536503.1_3'UTR|MED21_ENST00000546323.1_Frame_Shift_Del_p.A126fs	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	126					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity					Colorectal(261;0.0847)					GCTGATATTGCACAGTCACAGC	0.450													11	116	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													11	74	---	---	---	---					
PMEL	6490	broad.mit.edu	37	12	56355458	56355470	+	Frame_Shift_Del	DEL	GTTCCAGGCTTTG	GTTCCAGGCTTTG	-	rs144985891		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:56355458_56355470delGTTCCAGGCTTTG	ENST00000548747.1	-	2	785_797	c.123_135delCAAAGCCTGGAAC	c.(121-135)acfs	p.TKAWN41fs	PMEL_ENST00000536427.1_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000548493.1_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000360714.4_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000449260.2_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000552882.1_Frame_Shift_Del_p.TKAWN41fs			P40967	PMEL_HUMAN	premelanosome protein	41					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGCTGCCTGTTCCAGGCTTTGGTTCTGAGTT	0.540													11	167	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-	rs139915490		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:57572242delG	ENST00000243077.3	+	27	4928	c.4462delG	c.(4462-4464)ggfs	p.G1489fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1489					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGCTGTACGGGGGGGAGGT	0.587													7	118	---	---	---	---					
TMTC3	160418	broad.mit.edu	37	12	88553917	88553917	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:88553917delT	ENST00000266712.6	+	5	755	c.535delT	c.(535-537)ttfs	p.F179fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	179						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTGACAGTGTTTTTAGTGGC	0.318													11	165	---	---	---	---					
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917031	89917031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:89917031delA	ENST00000548729.1	-	3	1589	c.1287delT	c.(1285-1287)ttfs	p.F429fs	POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Frame_Shift_Del_p.F432fs|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Frame_Shift_Del_p.F260fs	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					GTAAATTAGGAAAAACGTTTT	0.403													9	97	---	---	---	---					
FAM71C	196472	broad.mit.edu	37	12	100042354	100042354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:100042354delA	ENST00000324341.1	+	1	824	c.402delA	c.(400-402)gtfs	p.V134fs	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACAACAGCGTAAAAAAACAGC	0.478													13	91	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													5	8	---	---	---	---					
SLITRK6	84189	broad.mit.edu	37	13	86368721	86368722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:86368721_86368722insT	ENST00000400286.2	-	2	2520_2521	c.1922_1923insA	c.(1921-1923)aaafs	p.K641fs		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	641						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTACTTGTTTCTTTTTGTATCT	0.411													13	156	---	---	---	---					
FANCM	57697	broad.mit.edu	37	14	45645955	45645955	+	Frame_Shift_Del	DEL	A	A	-	rs143681767		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:45645955delA	ENST00000267430.5	+	14	4083	c.3998delA	c.(3997-3999)cafs	p.Q1333fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1333					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTACCAGTGCAAAAAAAAGTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	82	---	---	---	---					
EIF5	1983	broad.mit.edu	37	14	103805991	103805991	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:103805991delA	ENST00000216554.3	+	10	1598	c.922delA	c.(922-924)aafs	p.K309fs	EIF5_ENST00000558506.1_Frame_Shift_Del_p.K309fs|EIF5_ENST00000392715.2_Frame_Shift_Del_p.K309fs	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	309	W2.				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TCACAACAACAAAAAAGCCCA	0.388													12	124	---	---	---	---					
EHD4	30844	broad.mit.edu	37	15	42192889	42192890	+	Frame_Shift_Ins	INS	-	-	G	rs145578237		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:42192889_42192890insG	ENST00000220325.4	-	6	1662_1663	c.1579_1580insC	c.(1579-1581)cctfs	p.P527fs		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	527	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGGCACGAGGTGGGGGGGCAGG	0.673													8	29	---	---	---	---					
TRPM7	54822	broad.mit.edu	37	15	50925140	50925140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:50925140delT	ENST00000313478.7	-	9	1338	c.1057delA	c.(1057-1059)cafs	p.T353fs	TRPM7_ENST00000560955.1_Frame_Shift_Del_p.T353fs	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	353					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGTTAAATGTTTTTTTGATA	0.338													10	64	---	---	---	---					
TM6SF1	53346	broad.mit.edu	37	15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83805312delT	ENST00000322019.9	+	10	1275	c.1001delT	c.(1000-1002)ctfs	p.L334fs	TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	334						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAAAATCCTTTTTTTAGCA	0.368													8	133	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													9	50	---	---	---	---					
IRX5	10265	broad.mit.edu	37	16	54966679	54966680	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:54966679_54966680delAG	ENST00000394636.4	+	2	856_857	c.519_520delAG	c.(517-522)aaagfs	p.KE173fs	IRX5_ENST00000558597.1_Frame_Shift_Del_p.KE107fs|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Frame_Shift_Del_p.KE173fs			P78411	IRX5_HUMAN	iroquois homeobox 5	173					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCCTCAAGAAAGAGAATAAAAT	0.599													14	132	---	---	---	---					
BCAR1	9564	broad.mit.edu	37	16	75268875	75268875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75268875delG	ENST00000546196.1	-	5	3487	c.1835delC	c.(1834-1836)ctfs	p.P612fs	BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P639fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P687fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P493fs			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	641	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTGAACTTAGGGGGTGAGGG	0.657													10	76	---	---	---	---					
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:77356311delA	ENST00000282849.5	-	14	2503	c.2085delT	c.(2083-2085)ttfs	p.F695fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	695	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403													8	86	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963208	27963208	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:27963208delA	ENST00000269033.3	-	14	2110	c.1959delT	c.(1957-1959)ttfs	p.F653fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.F680fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	653					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTAGGGCACTAAAAAAGTCAA	0.502													13	111	---	---	---	---					
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:40939870delG	ENST00000246914.5	+	8	1837	c.1816delG	c.(1816-1818)ggfs	p.G607fs	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	607					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCAGCCCCCTGGGGGGGTGCC	0.637													11	77	---	---	---	---					
NPIPB1P	729602	broad.mit.edu	37	18	11621297	11621298	+	RNA	INS	-	-	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:11621297_11621298insG	ENST00000547442.1	-	0	689_690																											TTCTTGCAGAAGGGGGGATCTG	0.460													10	302	---	---	---	---					
MIER2	54531	broad.mit.edu	37	19	308884	308886	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:308884_308886delGTA	ENST00000264819.4	-	11	1034_1036	c.1024_1026delTAC	c.(1024-1026)del	p.Y342del		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	342	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCTTCCACAGGTAGTAGTACTCG	0.670													10	93	---	---	---	---					
TMPRSS9	360200	broad.mit.edu	37	19	2422029	2422030	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:2422029_2422030insT	ENST00000332578.3	+	13	2230_2231	c.2230_2231insT	c.(2230-2232)cccfs	p.P744fs		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	744					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TCCCATGTCTCCCCCCTCGACC	0.663													7	102	---	---	---	---					
GIPC3	126326	broad.mit.edu	37	19	3586543	3586543	+	Frame_Shift_Del	DEL	G	G	-	rs8113232	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:3586543delG	ENST00000322315.5	+	2	321	c.276delG	c.(274-276)ctfs	p.L92fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	92										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCTCCTGGGGGGTCAGA	0.577											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	93	---	---	---	---					
DYRK1B	9149	broad.mit.edu	37	19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:40316612delG	ENST00000593685.1	-	11	2101	c.1633delC	c.(1633-1635)agfs	p.Q545fs	DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	545					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TATCGGGGCTGGGGGGGTAAC	0.692													7	48	---	---	---	---					
DEDD2	162989	broad.mit.edu	37	19	42713983	42713983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:42713983delG	ENST00000595337.1	-	4	545	c.458delC	c.(457-459)cafs	p.P153fs	DEDD2_ENST00000598727.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000596251.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.P148fs|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	153					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCGCTTGGTTGGGGGGGAGCC	0.662													7	32	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47424760	47424760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:47424760delA	ENST00000404338.3	+	1	2828	c.2828delA	c.(2827-2829)gafs	p.E943fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	943					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.K945fs*3(1)									GATGTGGTGGAAAAAAAGAAC	0.473													18	139	---	---	---	---					
EHD2	30846	broad.mit.edu	37	19	48244287	48244287	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:48244287delG	ENST00000263277.3	+	6	1481	c.1230delG	c.(1228-1230)cafs	p.Q410fs	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Del_p.Q274fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	410					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGGGCGTGCAGGGGGGCGCTT	0.677													8	62	---	---	---	---					
ZSCAN5D	646698	broad.mit.edu	37	19	56758135	56758135	+	Frame_Shift_Del	DEL	A	A	-	rs61738591		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:56758135delA	ENST00000600684.1	+	5	763	c.763delA	c.(763-765)aafs	p.255fs	ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000587340.1_Intron					zinc finger and SCAN domain containing 5D																		GAAGGAACCCAAAAAAAGAGC	0.498													10	86	---	---	---	---					
PCDH11X	27328	broad.mit.edu	37	X	91134260	91134261	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:91134260_91134261delAC	ENST00000373094.1	+	2	3866_3867	c.3021_3022delAC	c.(3019-3024)gtacfs	p.VH1007fs	PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000395337.2_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000361724.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000504220.1_Frame_Shift_Del_p.VH1007fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1007					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGTGTCCGTACACACCAGACC	0.406													19	154	---	---	---	---					
RNF128	79589	broad.mit.edu	37	X	106016281	106016281	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106016281delT	ENST00000255499.2	+	2	873	c.623delT	c.(622-624)atfs	p.I208fs	RNF128_ENST00000324342.3_Frame_Shift_Del_p.I182fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	208						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CACTATTCAATTTTTTTCGTT	0.388													11	160	---	---	---	---					
TENM1	10178	broad.mit.edu	37	X	124029940	124029941	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:124029940_124029941insT	ENST00000422452.2	-	2	430_431	c.367_368insA	c.(367-369)gtgfs	p.V123fs	TENM1_ENST00000371130.3_Frame_Shift_Ins_p.V123fs	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCTTATCCACATTCTTAGTGCA	0.495													49	291	---	---	---	---					
SRPK3	26576	broad.mit.edu	37	X	153049647	153049647	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:153049647delG	ENST00000489426.1	+	16	3693	c.1327delG	c.(1327-1329)ggfs	p.G444fs	SRPK3_ENST00000370100.1_Frame_Shift_Del_p.G302fs|SRPK3_ENST00000370101.3_Frame_Shift_Del_p.G377fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.G344fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.G343fs|SRPK3_ENST00000370104.1_Frame_Shift_Del_p.G376fs			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	377	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGAGAGACCGGGGGCCTCCT	0.642													8	80	---	---	---	---					
