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
KLHL38	340359	broad.mit.edu	37	8	124663820	124663820	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:124663820G>A	ENST00000325995.7	-	1	1370	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	449										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CATTTACCTGGATAAGGCGCA	0.532000													36	71					0	0	0.000509022	0	0
ZBTB16	7704	broad.mit.edu	37	11	114112908	114112908	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:114112908C>T	ENST00000335953.4	+	5	1853	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Silent_p.F491F|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	491					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGCCGTCTTCTGTCTGCTGT	0.597000													16	26					0	0	0.00074312	0	0
LUZP1	7798	broad.mit.edu	37	1	23419931	23419931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:23419931G>A	ENST00000302291.4	-	4	1625	c.824C>T	c.(823-825)tCa>tTa	p.S275L	LUZP1_ENST00000374623.3_Missense_Mutation_p.S275L|LUZP1_ENST00000314174.5_Missense_Mutation_p.S275L|LUZP1_ENST00000418342.1_Missense_Mutation_p.S275L			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	275						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCATTTTCTGATTTGTTTCT	0.398000													93	72					0	0	0.000781405	0	0
GPR98	84059	broad.mit.edu	37	5	89986685	89986685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:89986685C>T	ENST00000405460.2	+	31	6874	c.6778C>T	c.(6778-6780)Cga>Tga	p.R2260*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2260					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAATAATTCGAAATTCTGG	0.438000													8	15					0	0	0.000274275	0	0
BEND2	139105	broad.mit.edu	37	X	18189144	18189144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:18189144G>A	ENST00000380033.4	-	13	2294	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	BEND2_ENST00000380030.3_Missense_Mutation_p.P630L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	721	BEN 2.							p.P721H(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AATCTTATTGGGGTCAAGGGC	0.408000													98	177					0	0	0.000781405	0	0
DENND1C	79958	broad.mit.edu	37	19	6479052	6479052	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:6479052G>A	ENST00000381480.2	-	5	304	c.192C>T	c.(190-192)ccC>ccT	p.P64P	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Silent_p.P20P	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	64	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCTGCACGGCGGGGCTGGGGG	0.637000													35	60					0	0	0.00058488	0	0
NOTCH2	4853	broad.mit.edu	37	1	120461032	120461032	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120461032G>T	ENST00000256646.2	-	32	6145	c.5926C>A	c.(5926-5928)Cat>Aat	p.H1976N		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1976					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCTACCATGGTCATCCACT	0.532000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				10	453					0.000442599	0.00447265	0.000442599	1	0
HNRNPL	3191	broad.mit.edu	37	19	39330801	39330801	+	Missense_Mutation	SNP	C	C	G	rs115791874	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:39330801C>G	ENST00000221419.5	-	8	1534	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H|AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	390	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.D390H(1)|p.D257H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTAGATTGATCCAAGCCATAG	0.597000													4	111					0	0	8.12818e-05	0	0
CEL	1056	broad.mit.edu	37	9	135940600	135940600	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:135940600A>G	ENST00000372080.4	+	4	539	c.523A>G	c.(523-525)Agc>Ggc	p.S175G	CEL_ENST00000351304.7_Missense_Mutation_p.S172G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	172					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGGTTCCTCAGCACTGGGGA	0.622000													74	51					0	0	0.000781405	0	0
HSPG2	3339	broad.mit.edu	37	1	22199211	22199211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:22199211G>A	ENST00000374695.3	-	32	4010	c.3931C>T	c.(3931-3933)Cac>Tac	p.H1311Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1311	Laminin EGF-like 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGTGGAAGTGGTGGGGCCGG	0.657000													7	26					0	0	0.000157383	0	0
SFXN5	94097	broad.mit.edu	37	2	73188368	73188368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:73188368G>A	ENST00000410065.1	-	11	653	c.635C>T	c.(634-636)tCc>tTc	p.S212F	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000272433.2_Silent_p.L279L			Q8TD22	SFXN5_HUMAN	sideroflexin 5	0					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GTGCCTGCAGGAGAGCCGTCC	0.687000													7	17					0	0	0.000274275	0	0
JPH3	57338	broad.mit.edu	37	16	87723315	87723315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:87723315G>A	ENST00000284262.2	+	4	1591	c.1349G>A	c.(1348-1350)gGg>gAg	p.G450E	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	450					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGTCCACCGGGACACCCCTG	0.662000													13	8					0	0	0.00185496	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805692	91805692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:91805692C>T	ENST00000389857.6	-	8	825	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	247					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCTTGTCTTCGCTAGAGAGG	0.652000													19	9					0	0	0.000295444	0	0
KLHL38	340359	broad.mit.edu	37	8	124664570	124664570	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:124664570G>A	ENST00000325995.7	-	1	620	c.597C>T	c.(595-597)gcC>gcT	p.A199A	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	199	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AAACCATGAGGGCCTCAAACA	0.567000													23	41					0	0	0.000720815	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221198	67221198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:67221198G>A	ENST00000314586.6	-	5	1210	c.970C>T	c.(970-972)Ctt>Ttt	p.L324F	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	324	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGCCCTGCAAGGAGGTTCTGC	0.627000													14	22					0	0	0.000219431	0	0
NEB	4703	broad.mit.edu	37	2	152408283	152408283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:152408283C>T	ENST00000397345.3	-	129	20115	c.19913G>A	c.(19912-19914)cGg>cAg	p.R6638Q	NEB_ENST00000604864.1_Missense_Mutation_p.R6638Q|NEB_ENST00000172853.10_Missense_Mutation_p.R4937Q|NEB_ENST00000427231.2_Missense_Mutation_p.R6638Q|NEB_ENST00000409198.1_Missense_Mutation_p.R4937Q|NEB_ENST00000603639.1_Missense_Mutation_p.R6638Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4937	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGAAGGGCCCGGTCCAGATC	0.517000													10	28					0	0	0.000978159	0	0
DCAF13	25879	broad.mit.edu	37	8	104427664	104427664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:104427664G>A	ENST00000297579.5	+	1	723	c.446G>A	c.(445-447)aGa>aAa	p.R149K	DCAF13_ENST00000521971.1_5'UTR|DCAF13_ENST00000521716.1_5'UTR|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000519682.1_5'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.R149K(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCGGCCGGAAGAGCAACCGAG	0.562000													24	23					0	0	0.000586117	0	0
NFIX	4784	broad.mit.edu	37	19	13192606	13192606	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:13192606G>A	ENST00000358552.3	+	6	1065	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	NFIX_ENST00000587260.1_Silent_p.Q396Q|NFIX_ENST00000397661.2_Silent_p.Q397Q|NFIX_ENST00000585575.1_Silent_p.Q389Q|NFIX_ENST00000360105.4_Silent_p.Q359Q|NFIX_ENST00000588228.1_Silent_p.Q350Q|NFIX_ENST00000587760.1_Silent_p.Q389Q|NFIX_ENST00000592199.1_Silent_p.Q397Q			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	397					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACCACGGGCAGGACTCACTGA	0.637000											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	23					0	0	0.000958276	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824691	96824691	+	Silent	SNP	G	G	A	rs150790274	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:96824691G>A	ENST00000371270.3	-	4	602	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	CYP2C8_ENST00000539050.1_Silent_p.L84L|CYP2C8_ENST00000535898.1_Silent_p.L68L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	170					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCACAGCCCAGGATGAAAGTG	0.308000													35	60					0	0	0.00195071	0	0
CLCNKA	1187	broad.mit.edu	37	1	16354561	16354561	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:16354561C>T	ENST00000375692.1	+	11	1043	c.915C>T	c.(913-915)acC>acT	p.T305T	CLCNKA_ENST00000439316.2_Silent_p.T262T|CLCNKA_ENST00000420078.1_Silent_p.T305T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Silent_p.T305T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	305					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTCAGCGAACCTTCCTCAGCT	0.592000													57	43					0	0	0.000781405	0	0
NCOR1	9611	broad.mit.edu	37	17	15950304	15950304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:15950304G>A	ENST00000268712.3	-	42	6897	c.6640C>T	c.(6640-6642)Cgt>Tgt	p.R2214C	NCOR1_ENST00000395851.1_Missense_Mutation_p.R2111C|NCOR1_ENST00000395857.3_Missense_Mutation_p.R798C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2214	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCAACTTACGAAAAATCTCC	0.408000													22	11					0	0	0.000295444	0	0
TYK2	7297	broad.mit.edu	37	19	10463201	10463201	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:10463201T>C	ENST00000525621.1	-	23	3708	c.3227A>G	c.(3226-3228)tAt>tGt	p.Y1076C	TYK2_ENST00000524462.1_Missense_Mutation_p.Y891C|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.Y1076C	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1076	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTAGAACTTATACTCCTTCAG	0.627000													39	51					0	0	0.00170553	0	0
GPR116	221395	broad.mit.edu	37	6	46828604	46828604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:46828604C>T	ENST00000283296.7	-	16	2515	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	GPR116_ENST00000265417.7_Missense_Mutation_p.E743K|GPR116_ENST00000362015.4_Missense_Mutation_p.E743K|GPR116_ENST00000456426.2_Missense_Mutation_p.E601K|GPR116_ENST00000545669.1_Missense_Mutation_p.E172K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	743					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGAGCATCTCATCCTGAGAG	0.413000													18	53					0	0	0.00188189	0	0
GOLGA3	2802	broad.mit.edu	37	12	133372444	133372444	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:133372444G>A	ENST00000204726.3	-	11	3021	c.2463C>T	c.(2461-2463)tcC>tcT	p.S821S	GOLGA3_ENST00000537452.1_Silent_p.S821S|GOLGA3_ENST00000456883.2_Silent_p.S821S|GOLGA3_ENST00000545875.1_Silent_p.S821S|GOLGA3_ENST00000450791.2_Silent_p.S821S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	821					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTACCTGGCCGGATTTGATAG	0.413000													41	47					0	0	0.000781405	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672661	141672661	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:141672661T>G	ENST00000547270.1	-	1	912	c.829A>C	c.(829-831)Ata>Cta	p.I277L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	277					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					ATCACCCCTATTTTGTCGCGC	0.498000													41	34					0	0	0.000589545	0	0
DPEP1	1800	broad.mit.edu	37	16	89703940	89703940	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:89703940C>G	ENST00000393092.3	+	8	1124	c.833C>G	c.(832-834)gCc>gGc	p.A278G	DPEP1_ENST00000261615.4_Missense_Mutation_p.A278G|DPEP1_ENST00000421184.1_Missense_Mutation_p.A278G	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	278					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACCAACAAGGCCAACCTGTCC	0.577000													4	93					0	0	0.00024832	0	0
COPS7B	64708	broad.mit.edu	37	2	232672283	232672283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:232672283C>T	ENST00000373608.3	+	8	883	c.776C>T	c.(775-777)cCc>cTc	p.P259L	COPS7B_ENST00000350033.3_Silent_p.P241P|COPS7B_ENST00000410024.1_Silent_p.P241P|COPS7B_ENST00000410017.1_Missense_Mutation_p.P264L|COPS7B_ENST00000409295.1_Silent_p.P207P|COPS7B_ENST00000409091.1_Silent_p.P134P			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	0					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGAGTGTCCCCCTCACGCTG	0.602000													8	4					0	0	0.000157383	0	0
SGK223	157285	broad.mit.edu	37	8	8235486	8235486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:8235486G>A	ENST00000520004.1	-	3	697	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	SGK223_ENST00000330777.4_Missense_Mutation_p.P145S			Q86YV5	SG223_HUMAN		145							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGTAGAGGGACCAGCAGGC	0.632000													41	51					0	0	0.00170553	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088187	17088187	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17088187G>A	ENST00000443236.1	-	15	1921	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	583						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGGTTTTCGAAGAAGGTCT	0.612000													40	49					0	0	0.000781405	0	0
MTMR3	8897	broad.mit.edu	37	22	30415658	30415658	+	Silent	SNP	C	C	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr22:30415658C>A	ENST00000333027.3	+	17	2338	c.2010C>A	c.(2008-2010)acC>acA	p.T670T	MTMR3_ENST00000351488.3_Silent_p.T670T|MTMR3_ENST00000323630.5_Silent_p.T534T|MTMR3_ENST00000406629.1_Silent_p.T670T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.T670T	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	670					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGAAGCCCACCAGAGTGCCGG	0.622000													7	192					0.000274275	0.00277917	0.000274275	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54537535	54537535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:54537535C>T	ENST00000474759.1	+	5	446	c.398C>T	c.(397-399)gCt>gTt	p.A133V	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A133V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A133V|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A39V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	133						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACTTCAATGCTGTGCTGATA	0.418000													41	67					0	0	0.000781405	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237184	140237184	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:140237184C>G	ENST00000307360.5	+	1	1551	c.1551C>G	c.(1549-1551)taC>taG	p.Y517*	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.Y517*|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTGTACGCGCTGCAGC	0.682000													34	37					0	0	0.000953801	0	0
CEP250	11190	broad.mit.edu	37	20	34053976	34053976	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:34053976C>G	ENST00000397527.1	+	7	1159	c.439C>G	c.(439-441)Cgg>Ggg	p.R147G	CEP250_ENST00000397524.1_Missense_Mutation_p.R147G|CEP250_ENST00000342580.4_Missense_Mutation_p.R147G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	147					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACTGGAGCCGGGCCCGGGA	0.537000													6	8					0	0	0.00116845	0	0
RAG1	5896	broad.mit.edu	37	11	36596800	36596800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:36596800C>T	ENST00000299440.5	+	2	2058	c.1946C>T	c.(1945-1947)cCt>cTt	p.P649L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	649					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAAGCCAAACCTAACTCTGAA	0.458000									Familial Hemophagocytic Lymphohistiocytosis				18	31					0	0	0.000958276	0	0
COL14A1	7373	broad.mit.edu	37	8	121301973	121301973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:121301973C>T	ENST00000297848.3	+	34	4474	c.4204C>T	c.(4204-4206)Cga>Tga	p.R1402*	COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R1402*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R1307*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1402	Nonhelical region (NC4).|TSP N-terminal.				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)			GAAAATGGTTCGATCAAGAGG	0.428000													22	42					0	0	0.000375601	0	0
CIC	23152	broad.mit.edu	37	19	42798167	42798167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42798167C>T	ENST00000572681.2	+	18	6907	c.6839C>T	c.(6838-6840)cCc>cTc	p.P2280L	CIC_ENST00000575354.2_Missense_Mutation_p.P1374L|CIC_ENST00000160740.3_Missense_Mutation_p.P1372L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGCCCTCCCCCACCCTGCAG	0.637000			"""Mis, F, S"""		oligodendroglioma								25	84					0	0	0.00047179	0	0
SLC25A42	284439	broad.mit.edu	37	19	19217190	19217190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:19217190G>T	ENST00000318596.7	+	6	644	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	165					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AACCCCGAAGGAAATGTGAGT	0.652000													6	21					8.12818e-05	0.00082585	8.12818e-05	1	0
GPRIN2	9721	broad.mit.edu	37	10	47000166	47000166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:47000166C>T	ENST00000374314.4	+	1	2241	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	GPRIN2_ENST00000374317.1_Missense_Mutation_p.S429F			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	429										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GACAGCCTGTCTGTGGAGGGC	0.716000													4	11					0	0	0.00116845	0	0
USH2A	7399	broad.mit.edu	37	1	216497021	216497021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:216497021G>A	ENST00000366943.2	-	8	1731	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	USH2A_ENST00000307340.3_Missense_Mutation_p.R449C|USH2A_ENST00000366942.3_Missense_Mutation_p.R449C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	449	Laminin N-terminal.				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)		ACATTGCCACGGGAATATGGA	0.348000										HNSCC(13;0.011)			33	43					0	0	0.000692331	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925434	114925434	+	Silent	SNP	C	C	T	rs61724286		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:114925434C>T	ENST00000545257.1	+	15	2070	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P	TCF7L2_ENST00000355995.4_Silent_p.P521P|TCF7L2_ENST00000369397.4_Silent_p.P498P|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.P504P|TCF7L2_ENST00000543371.1_Silent_p.P504P|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000542695.1_Silent_p.P237P|TCF7L2_ENST00000466338.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	521					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GCTCCCCTCCCCGAGACGCCA	0.642000			T	VTI1A	colorectal								102	174					0	0	0.000781405	0	0
PDZD4	57595	broad.mit.edu	37	X	153070562	153070562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:153070562G>A	ENST00000164640.4	-	7	943	c.752C>T	c.(751-753)cCt>cTt	p.P251L	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Missense_Mutation_p.P142L|PDZD4_ENST00000393758.2_Missense_Mutation_p.P176L	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	251						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTGGGCAGGGGGTGATTT	0.602000													42	36					0	0	0.000589545	0	0
NR2C1	7181	broad.mit.edu	37	12	95456372	95456372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:95456372G>A	ENST00000333003.5	-	3	527	c.197C>T	c.(196-198)cCg>cTg	p.P66L	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.P66L|NR2C1_ENST00000330677.7_Missense_Mutation_p.P66L	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	66	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AACTTTTCCCGGAGTGGAATC	0.448000													16	17					0	0	0.000308642	0	0
NXF3	56000	broad.mit.edu	37	X	102339344	102339344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:102339344C>T	ENST00000395065.3	-	3	378	c.277G>A	c.(277-279)Gag>Aag	p.E93K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E4K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	93						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTTTTTGCTCTCTCTCCATG	0.473000													43	71					0	0	0.000589545	0	0
OR52A5	390054	broad.mit.edu	37	11	5153784	5153784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:5153784C>T	ENST00000307388.1	-	1	88	c.89G>A	c.(88-90)gGg>gAg	p.G30E		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAAGGAATCCCAATCCAACA	0.398000													22	24					0	0	0.00047179	0	0
EBF3	253738	broad.mit.edu	37	10	131639280	131639280	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:131639280A>T	ENST00000368648.3	-	14	1434	c.1362T>A	c.(1360-1362)aaT>aaA	p.N454K	EBF3_ENST00000355311.5_Missense_Mutation_p.N463K	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	463					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CGCTGCTTGTATTGCGACTGT	0.527000													29	51					0	0	0.000491102	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555338	155555338	+	Silent	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:155555338A>G	ENST00000295101.2	+	1	528	c.51A>G	c.(49-51)acA>acG	p.T17T	KCNJ3_ENST00000544049.1_Silent_p.T17T	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	17					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TAGTGACCACATCGTCCAGCG	0.597000													34	49					0	0	0.00111076	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887258	12887258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:12887258G>A	ENST00000535591.1	-	3	794	c.599C>T	c.(598-600)tCc>tTc	p.S200F		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	200										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATCCATGTGGGAGAGAACGAG	0.512000													101	290					0	0	0.000781405	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169319	33169319	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:33169319G>A	ENST00000374677.3	+	1	670	c.297G>A	c.(295-297)gaG>gaA	p.E99E	SLC39A7_ENST00000374675.3_Silent_p.E99E	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	99	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACTCCCATGAGAGCCTCTACC	0.542000													66	37					0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10358527	10358527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:10358527C>T	ENST00000255381.2	-	20	2370	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	754	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTCAATTTCAATAGACCCT	0.393000													27	18					0	0	0.000878237	0	0
LGALS9C	654346	broad.mit.edu	37	17	18387210	18387210	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:18387210A>G	ENST00000328114.6	+	2	142	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000584941.1_Missense_Mutation_p.I21V|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000583322.1_Missense_Mutation_p.I21V|LGALS9C_ENST00000581545.1_Missense_Mutation_p.I21V	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	21	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						TTCTGGGACTATCCAAGGGGG	0.582000													31	52					0	0	0.00111076	0	0
OR8D1	283159	broad.mit.edu	37	11	124180459	124180459	+	Silent	SNP	G	G	A	rs142777403	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:124180459G>A	ENST00000357821.2	-	1	274	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGAAATCGACGAAGGACAAGC	0.473000													28	42					0	0	0.000720815	0	0
GH2	2689	broad.mit.edu	37	17	61958244	61958244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:61958244G>A	ENST00000332800.7	-	4	477	c.344C>T	c.(343-345)cCc>cTc	p.P115L	GH2_ENST00000449787.2_Missense_Mutation_p.P100L|GH2_ENST00000456543.2_Missense_Mutation_p.P115L|GH2_ENST00000423893.2_Missense_Mutation_p.P115L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	115						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAGCTGCACGGGCTCCAGCCA	0.632000													18	9					0	0	0.00074312	0	0
ZNF7	7553	broad.mit.edu	37	8	146068380	146068380	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:146068380A>G	ENST00000528372.1	+	5	2128	c.1888A>G	c.(1888-1890)Ata>Gta	p.I630V	ZNF7_ENST00000544249.1_Missense_Mutation_p.I534V|ZNF7_ENST00000446747.2_Missense_Mutation_p.I641V|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.I630V			P17097	ZNF7_HUMAN	zinc finger protein 7	630					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GGTTAATACTATAAAGAAACT	0.428000													24	52					0	0	0.00047179	0	0
ANK2	287	broad.mit.edu	37	4	114288885	114288885	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:114288885G>A	ENST00000357077.4	+	42	11249	c.11196G>A	c.(11194-11196)gaG>gaA	p.E3732E	ANK2_ENST00000264366.6_Silent_p.E3699E|ANK2_ENST00000394537.3_Silent_p.E1647E|ANK2_ENST00000506722.1_Silent_p.E1638E|ANK2_ENST00000509550.1_Silent_p.E823E|ANK2_ENST00000510275.2_Silent_p.E299E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3699					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAAACTGAGGGGGACAGCT	0.478000													39	23					0	0	0.00148497	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844973	93844973	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93844973G>A	ENST00000315765.9	+	20	3401	c.3393G>A	c.(3391-3393)gtG>gtA	p.V1131V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1131					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCACCACGGTGATTCTCTCCC	0.512000													68	97					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179469522	179469522	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179469522G>A	ENST00000589042.1	-	281	54518	c.54294C>T	c.(54292-54294)acC>acT	p.T18098T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T9033T|TTN_ENST00000342175.6_Silent_p.T9225T|TTN_ENST00000359218.5_Silent_p.T9158T|TTN_ENST00000342992.6_Silent_p.T15530T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.T16457T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16457	Fibronectin type-III 31.						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)			TAACATAATGGGTGATTTCAC	0.438000													34	47					0	0	0.000409698	0	0
PSORS1C2	170680	broad.mit.edu	37	6	31105933	31105933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:31105933G>A	ENST00000259845.4	-	2	529	c.206C>T	c.(205-207)cCc>cTc	p.P69L	PSORS1C1_ENST00000547221.1_Intron|PSORS1C1_ENST00000259881.9_Intron	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	69						extracellular region				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGGACGACTGGGGCGGGTAGG	0.667000													14	52					0	0	0.000308642	0	0
MYO5B	4645	broad.mit.edu	37	18	47364122	47364122	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr18:47364122G>C	ENST00000285039.7	-	37	5202	c.4903C>G	c.(4903-4905)Ccc>Gcc	p.P1635A	MYO5B_ENST00000592688.1_Missense_Mutation_p.P205A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.P750A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1635	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TAGCCGGTGGGCTTCACACCA	0.483000													4	62					0	0	8.12818e-05	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190896	42190896	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42190896G>A	ENST00000006724.3	-	2	522	c.321C>T	c.(319-321)acC>acT	p.T107T	CEACAM7_ENST00000602225.1_Silent_p.T107T|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Silent_p.T107T|CEACAM7_ENST00000338196.4_Silent_p.T107T	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	107	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGATCAGCAGGGTTCCATTGG	0.418000													58	206					0	0	0.000781405	0	0
OVOL2	58495	broad.mit.edu	37	20	18022193	18022193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:18022193C>T	ENST00000278780.6	-	3	738	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	166					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.V166F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTGTGCGGACGTGCCTCTTC	0.532000													20	17					0	0	0.00188189	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209168922	209168922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:209168922C>T	ENST00000264380.4	+	11	1506	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.P450S|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.P353S|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.P364S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	450					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GACGCCTTCTCCCGACAGTGA	0.443000													21	45					0	0	0.00188189	0	0
TNNC1	7134	broad.mit.edu	37	3	52485804	52485804	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:52485804C>T	ENST00000232975.3	-	4	327	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	91					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CCTCAGATTTCCCTTTGCTGT	0.567000													27	49					0	0	0.000409698	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566133	155566133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:155566133G>A	ENST00000295101.2	+	2	1198	c.721G>A	c.(721-723)Ggt>Agt	p.G241S	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	241					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GACACCTGAGGGTGAGTTCCT	0.443000													32	53					0	0	0.000692331	0	0
HYDIN	54768	broad.mit.edu	37	16	71163640	71163640	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:71163640T>A	ENST00000393567.2	-	9	1280	c.1130A>T	c.(1129-1131)cAt>cTt	p.H377L	HYDIN_ENST00000393550.2_Missense_Mutation_p.H377L|HYDIN_ENST00000321489.5_Missense_Mutation_p.H377L|HYDIN_ENST00000288168.10_Missense_Mutation_p.H394L|HYDIN_ENST00000541601.1_Missense_Mutation_p.H394L|HYDIN_ENST00000538248.1_Missense_Mutation_p.H404L|HYDIN_ENST00000448691.1_Missense_Mutation_p.H377L|HYDIN_ENST00000448089.2_Missense_Mutation_p.H377L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	377										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AACAGAAAGATGTTCTCGGAG	0.468000													10	21					0	0	0.00185496	0	0
EPHX4	253152	broad.mit.edu	37	1	92528792	92528792	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:92528792G>A	ENST00000370383.4	+	7	1136	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	346						integral to membrane	hydrolase activity	p.V346V(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						CTGACATAGTGAACAAATTGA	0.318000													24	49					0	0	0.000720815	0	0
HECTD4	283450	broad.mit.edu	37	12	112690352	112690352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:112690352G>A	ENST00000430131.2	-	22	3307	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000377560.5_Missense_Mutation_p.P971L					HECT domain containing E3 ubiquitin protein ligase 4																		TAAGGAAGGGGGGGAAATGCA	0.398000													34	46					0	0	0.000814825	0	0
IL33	90865	broad.mit.edu	37	9	6254462	6254462	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:6254462G>A	ENST00000381434.3	+	6	534	c.520_splice	c.e6-1	p.G174_splice	IL33_ENST00000417746.2_Splice_Site_p.G48_splice|IL33_ENST00000456383.2_Splice_Site_p.G132_splice	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	174					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TAATTGTAAGGTGACGGTGTT	0.338000													11	25					0	0	0.000978159	0	0
NOTCH2	4853	broad.mit.edu	37	1	120548055	120548055	+	Silent	SNP	T	T	C	rs145641723	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120548055T>C	ENST00000256646.2	-	3	531	c.312A>G	c.(310-312)tcA>tcG	p.S104S	NOTCH2_ENST00000602566.1_Silent_p.S65S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	104					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGATGTTGAGTACTGGC	0.567000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				42	647					0	0	0.000781405	0	0
VPS13C	54832	broad.mit.edu	37	15	62208096	62208096	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:62208096G>A	ENST00000261517.5	-	61	8254	c.8181C>T	c.(8179-8181)ttC>ttT	p.F2727F	VPS13C_ENST00000395898.3_Silent_p.F2684F|VPS13C_ENST00000249837.3_Silent_p.F2684F|VPS13C_ENST00000395896.4_Silent_p.F2727F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2727					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CACGTATGCGGAAATGTCCAT	0.448000													18	34					0	0	0.00152264	0	0
CDHR1	92211	broad.mit.edu	37	10	85971455	85971455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:85971455G>A	ENST00000372117.3	+	14	1640	c.1537G>A	c.(1537-1539)Ggg>Agg	p.G513R	CDHR1_ENST00000440770.2_Missense_Mutation_p.G217R|CDHR1_ENST00000332904.3_Missense_Mutation_p.G513R	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	513	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTCCACCTATGGGACTGGGGC	0.577000													36	56					0	0	0.00170553	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	rs121913377		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				56	46					0	0	0.000781405	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765926	171765926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:171765926G>A	ENST00000311601.5	-	13	2353	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	728					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCGGAGGGGCTCTGCAGGA	0.632000													30	16					0	0	0.000491102	0	0
IGSF3	3321	broad.mit.edu	37	1	117146637	117146637	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:117146637G>A	ENST00000369486.3	-	6	1998	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	IGSF3_ENST00000369483.1_Silent_p.I431I|IGSF3_ENST00000318837.6_Silent_p.I431I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	411	Ig-like C2-type 4.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTCCACGGAGATGCTGCTCT	0.617000													6	12					0	0	0.00116845	0	0
OR4E2	26686	broad.mit.edu	37	14	22133660	22133660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:22133660C>T	ENST00000408935.1	+	1	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGCGTATGATCGTTACGTGGC	0.468000													75	23					0	0	0.000781405	0	0
TRBV19	28568	broad.mit.edu	37	7	142326601	142326601	+	RNA	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:142326601C>T	ENST00000390393.3	+	0	239																											CTGTGTGGTCCTTTGTCTCCT	0.532000													20	55					0	0	0.00047179	0	0
OR6V1	346517	broad.mit.edu	37	7	142749795	142749795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:142749795C>T	ENST00000418316.1	+	1	379	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGCCCTTGATCGCTTTGTGGC	0.577000													31	82					0	0	0.00178596	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908061	164908061	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:164908061G>A	ENST00000475390.1	-	2	1001	c.558C>T	c.(556-558)ccC>ccT	p.P186P	SLITRK3_ENST00000241274.3_Silent_p.P186P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	186						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGGAAGCATGGGGATGAGAT	0.383000										HNSCC(40;0.11)			23	31					0	0	0.000375601	0	0
ABCG8	64241	broad.mit.edu	37	2	44102292	44102292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:44102292G>A	ENST00000272286.2	+	11	1586	c.1496G>A	c.(1495-1497)gGg>gAg	p.G499E		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	499	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGATCCTCGGGGAGCTTCCG	0.542000													112	161					0	0	0.000781405	0	0
MTM1	4534	broad.mit.edu	37	X	149814235	149814235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:149814235G>A	ENST00000370396.2	+	9	812	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	MTM1_ENST00000413012.2_Missense_Mutation_p.R216Q|MTM1_ENST00000543350.1_Missense_Mutation_p.R138Q|MTM1_ENST00000542741.1_Missense_Mutation_p.R158Q|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	253	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGGAAACGAAATAAAGAT	0.398000													33	71					0	0	0.000491102	0	0
MROH7	374977	broad.mit.edu	37	1	55118647	55118647	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:55118647G>A	ENST00000414150.2	+	3	326	c.48G>A	c.(46-48)aaG>aaA	p.K16K	MROH7_ENST00000395690.2_Silent_p.K16K|MROH7_ENST00000421030.2_Silent_p.K16K|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Silent_p.K16K|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR					maestro heat-like repeat family member 7																		AAGACCCAAAGATGACACCAA	0.592000													17	51					0	0	0.000958276	0	0
PDZD4	57595	broad.mit.edu	37	X	153070563	153070563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:153070563G>A	ENST00000164640.4	-	7	942	c.751C>T	c.(751-753)Cct>Tct	p.P251S	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Missense_Mutation_p.P142S|PDZD4_ENST00000393758.2_Missense_Mutation_p.P176S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	251						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGGCAGGGGGTGATTTC	0.602000													43	37					0	0	0.000781405	0	0
CXorf38	159013	broad.mit.edu	37	X	40496279	40496279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:40496279C>T	ENST00000378426.1	-	3	841	c.244G>A	c.(244-246)Gta>Ata	p.V82I	CXorf38_ENST00000327877.5_Missense_Mutation_p.V201I|CXorf38_ENST00000440784.2_Missense_Mutation_p.V116I|CXorf38_ENST00000378421.1_Missense_Mutation_p.V82I			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	201										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CTGGAGTATACTGCCACAATC	0.358000													21	70					0	0	0.000295444	0	0
CEP290	80184	broad.mit.edu	37	12	88472896	88472896	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:88472896G>A	ENST00000552810.1	-	39	5680	c.5337C>T	c.(5335-5337)atC>atT	p.I1779I	CEP290_ENST00000309041.7_Silent_p.I1781I|CEP290_ENST00000397838.3_Silent_p.I839I|CEP290_ENST00000547691.2_Silent_p.I839I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1779					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCGATCAACGATTTGTTGAA	0.378000													12	20					0	0	0.00185496	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843795	106843795	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:106843795C>T	ENST00000276185.4	+	16	2625	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	875						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACCCATCTCTCCAACCCATTG	0.642000													5	20					0	0	0.00116845	0	0
CACNG3	10368	broad.mit.edu	37	16	24372868	24372868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:24372868C>T	ENST00000005284.3	+	4	1834	c.632C>T	c.(631-633)tCc>tTc	p.S211F		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	211					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CGAGCCAAATCCCACTCGGAG	0.498000													37	40					0	0	0.000953801	0	0
CR1	1378	broad.mit.edu	37	1	207787808	207787808	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:207787808G>A	ENST00000367049.4	+	40	6635	c.6635G>A	c.(6634-6636)tGg>tAg	p.W2212*	CR1_ENST00000367051.1_Nonsense_Mutation_p.W1762*|CR1_ENST00000367052.1_Nonsense_Mutation_p.W1762*|CR1_ENST00000367053.1_Nonsense_Mutation_p.W1762*|CR1_ENST00000400960.2_Nonsense_Mutation_p.W1762*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1762					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAAGCCCTTTGGAATAGCAGT	0.413000													12	40					0	0	0.000219431	0	0
CUL5	8065	broad.mit.edu	37	11	107959385	107959385	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:107959385T>C	ENST00000393094.2	+	12	1926	c.1311_splice	c.e12+1	p.V437_splice		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	437					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTAAAGAAGTGGTACATGAA	0.313000													13	25					0	0	0.00136819	0	0
ACSM1	116285	broad.mit.edu	37	16	20638546	20638546	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:20638546G>A	ENST00000219151.4	-	11	1555	c.345C>T	c.(343-345)ttC>ttT	p.F115F	ACSM1_ENST00000520010.1_Silent_p.F464F|ACSM1_ENST00000307493.4_Silent_p.F464F			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	464					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCTCCCCAGGAAACAAATGT	0.507000													99	136					0	0	0.000781405	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461731	50461731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:50461731C>T	ENST00000447370.2	-	8	1550	c.1460G>A	c.(1459-1461)tGg>tAg	p.W487*	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	487					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)		CCCAAGCCACCAGCGCAGAGA	0.701000													9	5					0	0	0.000978159	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48133923	48133923	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:48133923C>T	ENST00000405493.2	-	23	2457		c.e23+1		RAPGEF3_ENST00000548919.1_Splice_Site|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000449771.2_Splice_Site|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000549151.1_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3						regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGAGCACTCACCAGCAGCCTC	0.667000													3	7					0	0	0.00116845	0	0
SCN5A	6331	broad.mit.edu	37	3	38674791	38674791	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:38674791T>C	ENST00000413689.1	-	2	201	c.8A>G	c.(7-9)aAc>aGc	p.N3S	SCN5A_ENST00000449557.2_Missense_Mutation_p.N3S|SCN5A_ENST00000443581.1_Missense_Mutation_p.N3S|SCN5A_ENST00000455624.2_Missense_Mutation_p.N3S|SCN5A_ENST00000414099.2_Missense_Mutation_p.N3S|SCN5A_ENST00000450102.2_Missense_Mutation_p.N3S|SCN5A_ENST00000423572.2_Missense_Mutation_p.N3S|SCN5A_ENST00000333535.4_Missense_Mutation_p.N3S|SCN5A_ENST00000425664.1_Missense_Mutation_p.N3S|SCN5A_ENST00000451551.2_Missense_Mutation_p.N3S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	3					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TAATAGGAAGTTTGCCATCTT	0.592000													13	38					0	0	0.000422831	0	0
EPHA5	2044	broad.mit.edu	37	4	66535317	66535317	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:66535317G>A	ENST00000273854.3	-	1	744	c.144C>T	c.(142-144)gcC>gcT	p.A48A	EPHA5_ENST00000511294.1_Silent_p.A48A|EPHA5_ENST00000432638.2_Silent_p.A48A|EPHA5_ENST00000354839.4_Silent_p.A48A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	48					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCGGAGTGCGGCGCACAGGA	0.731000										TSP Lung(17;0.13)			3	8					0	0	6.4e-05	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035825	36035825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:36035825C>T	ENST00000282507.3	-	7	1648	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	UGT3A2_ENST00000513300.1_Missense_Mutation_p.G482E|UGT3A2_ENST00000545528.1_Missense_Mutation_p.G214E	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	516						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTCTGGCCCCACGCAGCCA	0.577000													13	7					0	0	0.000308642	0	0
S100A9	6280	broad.mit.edu	37	1	153333206	153333206	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:153333206C>T	ENST00000368738.3	+	3	280	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	79	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGAGGAGTTCATCATGCTGA	0.572000													32	45					0	0	0.00178596	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884482	228884482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:228884482C>T	ENST00000392056.3	-	7	1134	c.1088G>A	c.(1087-1089)aGa>aAa	p.R363K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R363K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	363						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)		TAGGTTGCTTCTCTGCTCTGC	0.438000													28	46					0	0	0.000409698	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152877	233152877	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:233152877C>T	ENST00000258229.8	-	27	4863	c.4629G>A	c.(4627-4629)acG>acA	p.T1543T	PCNXL2_ENST00000344698.2_Silent_p.T195T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1543						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTTGGGAGACGTTACCATAT	0.383000													14	83					0	0	0.00185496	0	0
NDOR1	27158	broad.mit.edu	37	9	140110212	140110212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:140110212C>T	ENST00000371521.4	+	11	1473	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S	NDOR1_ENST00000458322.2_Missense_Mutation_p.P457S|NDOR1_ENST00000344894.5_Missense_Mutation_p.P464S|NDOR1_ENST00000427047.2_Missense_Mutation_p.P430S	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	464					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGGGTAGCCCCCTTCCGAGC	0.677000													18	8					0	0	0.00152264	0	0
SATL1	340562	broad.mit.edu	37	X	84347460	84347460	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:84347460C>T	ENST00000395409.3	-	6	2024	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E	SATL1_ENST00000332921.5_3'UTR|SATL1_ENST00000509231.1_3'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	488	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCCAGCCCTCCTCAGAGGAAA	0.463000													7	6					0	0	8.12818e-05	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911383	230911383	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:230911383G>A	ENST00000295190.4	-	4	917	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	153						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTCTCTTCTGGAAATACCTGC	0.617000													13	23					0	0	0.00185496	0	0
CCDC129	223075	broad.mit.edu	37	7	31617863	31617863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:31617863C>T	ENST00000409210.1	+	6	893	c.709C>T	c.(709-711)Cct>Tct	p.P237S	CCDC129_ENST00000451887.2_Missense_Mutation_p.P355S|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.P329S			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	329										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCTTATCCTCCTCATGGTCT	0.502000													17	54					0	0	0.00074312	0	0
SMARCD3	6604	broad.mit.edu	37	7	150945580	150945580	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:150945580G>A	ENST00000262188.8	-	1	479	c.69C>T	c.(67-69)gtC>gtT	p.V23V	SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000356800.2_Intron|SMARCD3_ENST00000477169.1_Intron	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	23					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)		CCACCCCATGGACCAGAAACT	0.657000													56	53					0	0	0.000781405	0	0
TP73	7161	broad.mit.edu	37	1	3639953	3639953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:3639953G>A	ENST00000378295.4	+	6	807	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	TP73_ENST00000357733.3_Missense_Mutation_p.E218K|TP73_ENST00000604074.1_Missense_Mutation_p.E218K|TP73_ENST00000604479.1_Missense_Mutation_p.E218K|TP73_ENST00000378280.1_Missense_Mutation_p.E169K|TP73_ENST00000346387.4_Missense_Mutation_p.E218K|TP73_ENST00000603362.1_Missense_Mutation_p.E218K|TP73_ENST00000378288.4_Missense_Mutation_p.E169K|TP73_ENST00000354437.4_Missense_Mutation_p.E218K|TP73_ENST00000378285.1_Missense_Mutation_p.E169K|TP73_ENST00000378290.4_Missense_Mutation_p.E147K	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	218	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CATCCGCGTGGAAGGCAATAA	0.622000													23	15					0	0	0.000720815	0	0
IL17RD	54756	broad.mit.edu	37	3	57143635	57143635	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:57143635G>A	ENST00000296318.7	-	5	568	c.480C>T	c.(478-480)ttC>ttT	p.F160F	IL17RD_ENST00000320057.5_Silent_p.F16F|IL17RD_ENST00000463523.1_Silent_p.F16F|IL17RD_ENST00000427856.2_Silent_p.F136F	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	160						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CAACCTTTACGAAATAATCCG	0.413000													31	46					0	0	0.00178596	0	0
ATP7A	538	broad.mit.edu	37	X	77245141	77245141	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:77245141G>A	ENST00000341514.6	+	4	1178	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.G341G	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	341	HMA 3.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TATCACCGGGGCTATATAGAG	0.428000													92	137					0	0	0.000781405	0	0
SGK1	6446	broad.mit.edu	37	6	134491574	134491574	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:134491574C>T	ENST00000367858.5	-	14	2011		c.e14-1		SGK1_ENST00000367857.5_Splice_Site|SGK1_ENST00000413996.3_Splice_Site|SGK1_ENST00000475719.2_Splice_Site|SGK1_ENST00000528577.1_Splice_Site|SGK1_ENST00000237305.7_Splice_Site	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGGGCCCACTCTGTGACGGGA	0.507000													24	39					0	0	0.00127121	0	0
NDOR1	27158	broad.mit.edu	37	9	140110213	140110213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:140110213C>T	ENST00000371521.4	+	11	1474	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	NDOR1_ENST00000458322.2_Missense_Mutation_p.P457L|NDOR1_ENST00000344894.5_Missense_Mutation_p.P464L|NDOR1_ENST00000427047.2_Missense_Mutation_p.P430L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	464					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGGGTAGCCCCCTTCCGAGCA	0.682000													19	8					0	0	0.00188189	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77203529	77203529	+	Silent	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:77203529A>G	ENST00000426126.2	+	5	1084	c.435A>G	c.(433-435)aaA>aaG	p.K145K	ZDHHC17_ENST00000359019.4_Silent_p.K95K|ZDHHC17_ENST00000334822.5_Silent_p.K145K	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	145					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						AACTAATGAAATATGGTGCAG	0.368000													8	9					0	0	0.000673444	0	0
SCAF11	9169	broad.mit.edu	37	12	46321226	46321226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:46321226G>A	ENST00000465950.1	-	1	2522	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	SCAF11_ENST00000419565.2_Missense_Mutation_p.S753F|SCAF11_ENST00000549162.1_Missense_Mutation_p.S561F|SCAF11_ENST00000369367.3_Missense_Mutation_p.S753F			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	753					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						ATTATTTTCAGAACAGTGTGT	0.353000													35	54					0	0	0.000814825	0	0
CRB1	23418	broad.mit.edu	37	1	197390978	197390978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:197390978G>A	ENST00000367397.1	+	2	1021	c.163G>A	c.(163-165)Gat>Aat	p.D55N	CRB1_ENST00000544212.1_Missense_Mutation_p.D155N|CRB1_ENST00000367399.2_Missense_Mutation_p.D562N|CRB1_ENST00000538660.1_Missense_Mutation_p.D674N|CRB1_ENST00000367400.3_Missense_Mutation_p.D674N|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.D605N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	674	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTGAGAAAGGATTGGTGTGA	0.483000													45	13					0	0	0.000781405	0	0
NLRP10	338322	broad.mit.edu	37	11	7984813	7984813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:7984813C>T	ENST00000328600.2	-	1	391	c.230G>A	c.(229-231)gGc>gAc	p.G77D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	77	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCTTCAAGCCCTTGAGGAC	0.542000													16	48					0	0	0.000422831	0	0
KMT2D	8085	broad.mit.edu	37	12	49421021	49421021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:49421021G>A	ENST00000301067.7	-	48	14727	c.14728C>T	c.(14728-14730)Cct>Tct	p.P4910S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCTTCAGGAGGTGGGGCCGAG	0.627000													50	74					0	0	0.000781405	0	0
BAGE2	85319	broad.mit.edu	37	21	11039421	11039421	+	RNA	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr21:11039421C>T	ENST00000470054.1	-	0	782									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCCAATTCGGTATTCACT	0.279000													7	128					0	0	8.12818e-05	0	0
OR2L2	26246	broad.mit.edu	37	1	248202226	248202226	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248202226G>A	ENST00000366479.2	+	1	753	c.657G>A	c.(655-657)cgG>cgA	p.R219R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTATGGCCGGGTTCTCCTTG	0.502000													35	102					0	0	0.00058488	0	0
NACA	4666	broad.mit.edu	37	12	57110776	57110776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:57110776G>A	ENST00000454682.1	-	3	4819	c.4538C>T	c.(4537-4539)cCc>cTc	p.P1513L	NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GACCTCTTTGGGGGAAGAAGG	0.587000			T	BCL6	NHL								31	45					0	0	0.00058488	0	0
EBF3	253738	broad.mit.edu	37	10	131671784	131671784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:131671784G>A	ENST00000368648.3	-	8	785	c.713C>T	c.(712-714)tCc>tTc	p.S238F	EBF3_ENST00000355311.5_Missense_Mutation_p.S238F	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	238	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCCGTGTTTGGAATTGTTGTG	0.498000													22	31					0	0	0.00152264	0	0
C1orf65	164127	broad.mit.edu	37	1	223568218	223568218	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:223568218G>A	ENST00000366875.3	+	1	1504	c.1401G>A	c.(1399-1401)agG>agA	p.R467R		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	467										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGGCCTGAGGAAGGAGCGGC	0.617000													24	28					0	0	0.000375601	0	0
OR10S1	219873	broad.mit.edu	37	11	123848156	123848156	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:123848156G>A	ENST00000531945.1	-	1	332	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGCATCCAGGAAGGAGAGGT	0.562000													8	9					0	0	0.000157383	0	0
STK24	8428	broad.mit.edu	37	13	99171669	99171669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr13:99171669G>A	ENST00000397517.2	-	2	177	c.101C>T	c.(100-102)tCc>tTc	p.S34F	STK24_ENST00000481288.1_5'UTR|STK24_ENST00000539966.1_Missense_Mutation_p.S34F|STK24_ENST00000376547.3_Missense_Mutation_p.S46F	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	46					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCTCCAAAGGAGCCCTTCCC	0.423000													147	45					0	0	0.000781405	0	0
RBM10	8241	broad.mit.edu	37	X	47041239	47041239	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:47041239C>G	ENST00000377604.3	+	15	2409	c.1667C>G	c.(1666-1668)aCt>aGt	p.T556S	RBM10_ENST00000345781.6_Missense_Mutation_p.T479S|RBM10_ENST00000329236.7_Missense_Mutation_p.T478S|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	556					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACCAGCCCCACTGCCCAGGAA	0.567000													3	33					0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13885252	13885252	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:13885252C>T	ENST00000265104.4	-	19	2933	c.2829G>A	c.(2827-2829)agG>agA	p.R943R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	943	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTCTTTTTCCTCGTGACTG	0.413000									Kartagener syndrome				21	17					0	0	0.00047179	0	0
NDST4	64579	broad.mit.edu	37	4	115754787	115754787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:115754787G>A	ENST00000264363.2	-	12	3049	c.2371C>T	c.(2371-2373)Cgt>Tgt	p.R791C		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	791	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAATTATAACGAGGTGTAACT	0.378000													14	11					0	0	0.000308642	0	0
EPHA10	284656	broad.mit.edu	37	1	38227621	38227621	+	Silent	SNP	G	G	A	rs138523815		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:38227621G>A	ENST00000373048.4	-	3	305	c.306C>T	c.(304-306)ttC>ttT	p.F102F	EPHA10_ENST00000427468.2_Silent_p.F102F|EPHA10_ENST00000319637.6_Silent_p.F102F	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	102						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGTTCCACGAAGATGCGCT	0.612000													34	129					0	0	0.000953801	0	0
PLB1	151056	broad.mit.edu	37	2	28843798	28843798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:28843798G>A	ENST00000422425.2	+	48	3491	c.3447G>A	c.(3445-3447)tgG>tgA	p.W1149*	PLB1_ENST00000541605.1_Nonsense_Mutation_p.W125*|PLB1_ENST00000327757.5_Nonsense_Mutation_p.W1160*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1160	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAGCACCTGGGAGGGGACAG	0.562000													33	63					0	0	0.00111076	0	0
CPAMD8	27151	broad.mit.edu	37	19	17049250	17049250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17049250C>T	ENST00000443236.1	-	23	2972	c.2941G>A	c.(2941-2943)Gga>Aga	p.G981R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	934						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGGGGGACTCCTTCCGCCTGA	0.602000													3	7					0	0	0.000602214	0	0
COL22A1	169044	broad.mit.edu	37	8	139838922	139838922	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:139838922G>A	ENST00000303045.6	-	6	1394	c.948C>T	c.(946-948)atC>atT	p.I316I	COL22A1_ENST00000435777.1_Silent_p.I316I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	316	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTACTGGTCGATGACCTGCC	0.527000										HNSCC(7;0.00092)			32	49					0	0	0.000814825	0	0
NRXN1	9378	broad.mit.edu	37	2	51254945	51254945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:51254945C>T	ENST00000404971.1	-	2	1806	c.467G>A	c.(466-468)gGg>gAg	p.G156E	NRXN1_ENST00000406316.2_Missense_Mutation_p.G156E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G156E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G156E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G156E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G156E|NRXN1_ENST00000405581.1_Missense_Mutation_p.G156E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	156	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGGCAGCCCCCCGACGAAAAG	0.662000													7	15					0	0	8.12818e-05	0	0
WIPF2	147179	broad.mit.edu	37	17	38421357	38421357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:38421357G>A	ENST00000323571.4	+	5	1169	c.929G>A	c.(928-930)aGg>aAg	p.R310K	WIPF2_ENST00000585043.1_Missense_Mutation_p.R310K|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.R310K|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	310						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTGAGTAATAGGCCACCTCCC	0.552000										HNSCC(43;0.11)			12	17					0	0	0.00185496	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797623	93797623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93797623C>T	ENST00000315765.9	+	4	763	c.755C>T	c.(754-756)cCt>cTt	p.P252L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	252	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCACCAACCCTGATTCAGTT	0.398000													14	33					0	0	0.00185496	0	0
NRK	203447	broad.mit.edu	37	X	105132293	105132293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:105132293G>A	ENST00000428173.2	+	5	562	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	NRK_ENST00000536164.1_Missense_Mutation_p.E87K|NRK_ENST00000243300.9_Missense_Mutation_p.E87K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	87	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATAGGATGAGGAAGAGGATCT	0.408000										HNSCC(51;0.14)			4	8					0	0	0.00024832	0	0
PCSK7	9159	broad.mit.edu	37	11	117100225	117100225	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:117100225G>A	ENST00000320934.3	-	3	966	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	112				A -> P (in Ref. 1; AAC50417 and 3; AAB03087).	peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCTGCCGGATGGCCTCCACCT	0.652000			T	IGH@	MLCLS								26	29					0	0	0.00127121	0	0
RGPD4	285190	broad.mit.edu	37	2	108488586	108488586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:108488586G>A	ENST00000408999.3	+	20	4203	c.4126G>A	c.(4126-4128)Gaa>Aaa	p.E1376K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1376K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1376	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAATGGAAAGAAAGGGGCAT	0.348000													75	150					0	0	0.000781405	0	0
RYR3	6263	broad.mit.edu	37	15	34080582	34080582	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:34080582C>T	ENST00000389232.4	+	67	9823	c.9753C>T	c.(9751-9753)atC>atT	p.I3251I	RYR3_ENST00000415757.3_Silent_p.I3251I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3251					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACTCCTCATCCTGGACGAGT	0.562000													41	51					0	0	0.00195071	0	0
PTPN23	25930	broad.mit.edu	37	3	47449887	47449887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:47449887G>A	ENST00000265562.4	+	15	1314	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	PTPN23_ENST00000431726.1_Missense_Mutation_p.A287T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	413					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAACCTTGATGCCTACAGCCA	0.587000													22	26					0	0	0.000375601	0	0
NPY1R	4886	broad.mit.edu	37	4	164247100	164247100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:164247100G>A	ENST00000296533.2	-	2	1138	c.607C>T	c.(607-609)Cca>Tca	p.P203S	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	203					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGTCCGATGGAAATTGATCA	0.383000													19	8					0	0	0.000958276	0	0
OR51G1	79324	broad.mit.edu	37	11	4944836	4944836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:4944836G>A	ENST00000321961.2	-	1	801	c.734C>T	c.(733-735)tCt>tTt	p.S245F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATATGAGAGACACAGGT	0.542000													22	42					0	0	0.000720815	0	0
CCNB3	85417	broad.mit.edu	37	X	50054483	50054483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:50054483G>A	ENST00000376042.1	+	6	3612	c.3314G>A	c.(3313-3315)gGa>gAa	p.G1105E	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.G1105E			Q8WWL7	CCNB3_HUMAN	cyclin B3	1105					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAGGCCAAGGGAACACCAAAG	0.443000													7	7					0	0	0.000157383	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77328904	77328904	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:77328904G>A	ENST00000282849.5	-	19	3340	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	974	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TCACTGGACAGAGAGAATGCA	0.552000													20	25					0	0	0.00152264	0	0
DGAT2	84649	broad.mit.edu	37	11	75509401	75509401	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:75509401C>T	ENST00000228027.7	+	7	1199	c.939C>T	c.(937-939)atC>atT	p.I313I	DGAT2_ENST00000376262.3_Silent_p.I270I	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	313					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCCCATGCATCTTCCATGGTC	0.572000													29	42					0	0	0.00106085	0	0
CLEC3B	7123	broad.mit.edu	37	3	45067941	45067941	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:45067941G>A	ENST00000296130.4	+	1	267	c.87G>A	c.(85-87)aaG>aaA	p.K29K	CLEC3B_ENST00000490386.1_Intron	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	29					skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGCCCAAGAAGATTGTAA	0.602000													15	13					0	0	0.00074312	0	0
DFNB59	494513	broad.mit.edu	37	2	179325898	179325898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179325898G>A	ENST00000409117.3	+	7	1312	c.956G>A	c.(955-957)aGg>aAg	p.R319K	DFNB59_ENST00000375129.4_Missense_Mutation_p.R319K	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	319					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AACTTCAAAAGGGAGACAGTT	0.413000													56	71					0	0	0.000781405	0	0
COL8A1	1295	broad.mit.edu	37	3	99513893	99513893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:99513893C>T	ENST00000261037.3	+	5	1528	c.1148C>T	c.(1147-1149)cCa>cTa	p.P383L	COL8A1_ENST00000273342.4_Missense_Mutation_p.P383L	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	383	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATAGGTGCCCCAGGAATAGGG	0.597000													12	15					0	0	0.00136819	0	0
KRT37	8688	broad.mit.edu	37	17	39578656	39578656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:39578656C>T	ENST00000225550.3	-	4	762	c.763G>A	c.(763-765)Gag>Aag	p.E255K	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	255	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CGGAACTTCTCCCCCAGCTGA	0.557000													46	34					0	0	0.000781405	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841569	36841569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:36841569G>A	ENST00000279024.4	-	14	3749	c.3478C>T	c.(3478-3480)Cgg>Tgg	p.R1160W		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1160										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGCTGCCGGAAGAAGGTG	0.647000													27	51					0	0	0.00127121	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801484	185801484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:185801484C>T	ENST00000302277.6	+	4	1955	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	454						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCATCAATTTCCTATAGCTGT	0.348000													39	73					0	0	0.000953801	0	0
ANK3	288	broad.mit.edu	37	10	61834621	61834621	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:61834621C>T	ENST00000280772.1	-	37	6209	c.6018G>A	c.(6016-6018)gcG>gcA	p.A2006A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2006					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGACTGGCTCGCAGCAGCTT	0.448000													28	60					0	0	0.00127121	0	0
TTN	7273	broad.mit.edu	37	2	179417368	179417368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179417368C>T	ENST00000589042.1	-	335	90483	c.90259G>A	c.(90259-90261)Gaa>Aaa	p.E30087K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21022K|TTN_ENST00000342175.6_Missense_Mutation_p.E21214K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21147K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27519K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28446K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28446	Fibronectin type-III 119.						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)			ACCTCAATTTCACATGTCTTA	0.448000													29	36					0	0	0.000339439	0	0
NLRP5	126206	broad.mit.edu	37	19	56539552	56539552	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:56539552C>T	ENST00000390649.3	+	7	1953	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	651						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACTGGAGGTCCTGCTGGGCT	0.582000													27	8					0	0	0.00127121	0	0
CYLC2	1539	broad.mit.edu	37	9	105767302	105767302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:105767302C>T	ENST00000374798.3	+	5	459	c.389C>T	c.(388-390)tCg>tTg	p.S130L	CYLC2_ENST00000487798.1_Missense_Mutation_p.S130L	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	130	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ACAACAGATTCGGAATCAGAA	0.318000													13	6					0	0	0.00136819	0	0
REEP6	92840	broad.mit.edu	37	19	1495357	1495357	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:1495357C>T	ENST00000233596.3	+	2	284	c.180C>T	c.(178-180)ctC>ctT	p.L60L		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	60						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		TGTGCAATCTCATCGGATTTG	0.657000													17	29					0	0	0.000958276	0	0
TRHDE	29953	broad.mit.edu	37	12	72969158	72969158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:72969158G>A	ENST00000261180.4	+	11	2216	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	707					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAATTAATCCGGAATCATGAG	0.338000													20	34					0	0	0.000295444	0	0
OTOF	9381	broad.mit.edu	37	2	26781361	26781361	+	Splice_Site	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:26781361C>G	ENST00000272371.2	-	1	205	c.79_splice	c.e1+1	p.G27_splice	OTOF_ENST00000403946.3_Splice_Site_p.G27_splice	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	27					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCCCTACCTCGGAAAGTC	0.652000													26	45					0	0	0.001512	0	0
PPL	5493	broad.mit.edu	37	16	4935885	4935885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:4935885C>T	ENST00000345988.2	-	22	2860	c.2771G>A	c.(2770-2772)aGg>aAg	p.R924K	PPL_ENST00000590782.2_Missense_Mutation_p.R922K	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	924					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCCTGATTCCTCAAGGTCCA	0.602000													45	60					0	0	0.000781405	0	0
CHL1	10752	broad.mit.edu	37	3	432815	432815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:432815C>T	ENST00000256509.2	+	22	3406	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	CHL1_ENST00000397491.2_Missense_Mutation_p.P906S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	906	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGAAAGTGAGCCTTATATATT	0.378000													20	39					0	0	0.000295444	0	0
STK40	83931	broad.mit.edu	37	1	36809729	36809729	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:36809729G>A	ENST00000359297.2	-	7	883	c.876C>T	c.(874-876)acC>acT	p.T292T	STK40_ENST00000373132.3_Silent_p.T292T|STK40_ENST00000373129.3_Silent_p.T292T|STK40_ENST00000373130.3_Silent_p.T297T			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	292	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				ACTCAGGAATGGTATACTCGG	0.632000													27	12					0	0	0.00106085	0	0
PRKCB	5579	broad.mit.edu	37	16	24202506	24202506	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:24202506G>A	ENST00000303531.7	+	16	1970	c.1818G>A	c.(1816-1818)gaG>gaA	p.E606E	PRKCB_ENST00000321728.7_Silent_p.E606E	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	606	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTGATTGGGAGAAACTTGAAC	0.478000													43	64					0	0	0.000589545	0	0
CHRNG	1146	broad.mit.edu	37	2	233409492	233409492	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:233409492G>A	ENST00000389494.3	+	11	1281	c.1260G>A	c.(1258-1260)ccG>ccA	p.P420P	CHRNG_ENST00000389492.3_Silent_p.P368P	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	420					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		AGAAAGGCCCGGAGTTAGGGC	0.582000													24	40					0	0	0.001512	0	0
LAMA5	3911	broad.mit.edu	37	20	60899214	60899214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:60899214G>A	ENST00000252999.3	-	43	5756	c.5690C>T	c.(5689-5691)gCt>gTt	p.A1897V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1897	Laminin EGF-like 17.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACGAAGCCAGCCTGGCAGCG	0.652000													17	21					0	0	0.000295444	0	0
FBXO7	25793	broad.mit.edu	37	22	32887122	32887122	+	Silent	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr22:32887122C>G	ENST00000266087.7	+	6	1248	c.921C>G	c.(919-921)ctC>ctG	p.L307L	FBXO7_ENST00000382058.3_Silent_p.L228L|FBXO7_ENST00000397426.1_Silent_p.L193L	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	307					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCTCGCCTCTTTAAAGACC	0.333000													50	99					0	0	0.000781405	0	0
DDR2	4921	broad.mit.edu	37	1	162731115	162731115	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:162731115C>T	ENST00000367922.2	+	10	1408	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	DDR2_ENST00000367921.3_Silent_p.L324L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	324					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCCCCTTGTCCTGGATGACGT	0.507000													22	27					0	0	0.000375601	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77244685	77244685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:77244685C>T	ENST00000426126.2	+	17	2468	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.R607C	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	607					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGGCCTCTTTCGTCCTGTTAT	0.418000													51	84					0	0	0.000781405	0	0
TYRP1	7306	broad.mit.edu	37	9	12695549	12695549	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:12695549A>C	ENST00000388918.5	+	3	549	c.420A>C	c.(418-420)gaA>gaC	p.E140D	TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	140					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTAAAGAAGAAAAGAACCACT	0.448000									Oculocutaneous Albinism				25	34					0	0	0.000878237	0	0
PALLD	23022	broad.mit.edu	37	4	169846138	169846138	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:169846138G>T	ENST00000335742.7	+	20	4099	c.2742G>T	c.(2740-2742)caG>caT	p.Q914H	PALLD_ENST00000505667.1_Missense_Mutation_p.Q1089H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.Q690H|PALLD_ENST00000507735.1_Missense_Mutation_p.Q585H|PALLD_ENST00000261509.6_Missense_Mutation_p.Q1072H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1296					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCTCATTCAGGGAGCCACAA	0.473000									Pancreatic Cancer, Familial Clustering of				38	10					5.71845e-15	5.89016e-14	0.00111076	1	0
CACNA1A	773	broad.mit.edu	37	19	13356002	13356002	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:13356002C>G	ENST00000360228.5	-	31	4943	c.4944G>C	c.(4942-4944)gaG>gaC	p.E1648D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1649D|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1649					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTACCCCAAACTCAGTCACGA	0.587000													5	54					0	0	0.000157383	0	0
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:175598335G>A	ENST00000274093.3	-	7	1323	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S274L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	274					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478000													15	12					0	0	0.000566183	0	0
RYR2	6262	broad.mit.edu	37	1	237774098	237774098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:237774098G>T	ENST00000366574.2	+	36	5037	c.4720G>T	c.(4720-4722)Gag>Tag	p.E1574*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1558*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1572*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1574	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTCAAGAGTGAGCACAAGAA	0.527000													5	8					2.0095e-06	2.05287e-05	8.12818e-05	1	0
CASQ2	845	broad.mit.edu	37	1	116311075	116311075	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:116311075C>A	ENST00000261448.5	-	1	327	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	CASQ2_ENST00000456138.2_Missense_Mutation_p.G30W	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	30					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGGTCCTTCCCATCATATGTG	0.428000													5	92					0.000602214	0.0060529	0.000602214	1	0
OR52D1	390066	broad.mit.edu	37	11	5510825	5510825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:5510825G>T	ENST00000322641.5	+	1	911	c.889G>T	c.(889-891)Gga>Tga	p.G297*	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCTCTATGGAGCTAGAAC	0.458000													18	26					1.33834e-09	1.37097e-08	0.000958276	1	0
GABRA6	2559	broad.mit.edu	37	5	161117247	161117247	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:161117247G>A	ENST00000523217.1	+	7	926	c.684G>A	c.(682-684)agG>agA	p.R228R	GABRA6_ENST00000274545.5_Silent_p.R238R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	238					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTGCAAAGGAAGATGGGCT	0.398000										TCGA Ovarian(5;0.080)			31	18					0	0	0.00058488	0	0
ZNF292	23036	broad.mit.edu	37	6	87970646	87970646	+	Silent	SNP	A	A	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:87970646A>T	ENST00000369577.3	+	8	7342	c.7299A>T	c.(7297-7299)tcA>tcT	p.S2433S	ZNF292_ENST00000339907.4_Silent_p.S2428S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTGCAACTCACAAGTAAAGG	0.348000													9	13					0	0	0.000442599	0	0
TRHDE	29953	broad.mit.edu	37	12	72969159	72969159	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:72969159G>A	ENST00000261180.4	+	11	2217	c.2121G>A	c.(2119-2121)cgG>cgA	p.R707R	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	707					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATTAATCCGGAATCATGAGG	0.338000													20	34					0	0	0.000295444	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841570	36841570	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:36841570G>A	ENST00000279024.4	-	14	3748	c.3477C>T	c.(3475-3477)ttC>ttT	p.F1159F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1159										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTGCTGCCGGAAGAAGGTGG	0.652000													27	53					0	0	0.00127121	0	0
TTC27	55622	broad.mit.edu	37	2	32859011	32859011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:32859011C>T	ENST00000317907.4	+	3	566	c.335C>T	c.(334-336)cCc>cTc	p.P112L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	112							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TGGACGGGGCCCCCTGTTGAC	0.368000													35	98					0	0	0.00148497	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030868	94030868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:94030868C>T	ENST00000265140.5	+	21	3447	c.3028C>T	c.(3028-3030)Ctt>Ttt	p.L1010F	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	1010										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GTTACTGGATCTTTATGCTGG	0.398000													30	46					0	0	0.000339439	0	0
MICAL2	9645	broad.mit.edu	37	11	12246316	12246316	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:12246316G>C	ENST00000256194.4	+	13	1925	c.1637G>C	c.(1636-1638)cGc>cCc	p.R546P	MICAL2_ENST00000342902.5_Missense_Mutation_p.R546P|MICAL2_ENST00000527546.1_Missense_Mutation_p.R546P|MICAL2_ENST00000379612.3_Missense_Mutation_p.R546P|MICAL2_ENST00000537344.1_Missense_Mutation_p.R546P	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	546	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ACATCCTGGCGCAGTGGGTTG	0.642000													22	38					0	0	0.000295444	0	0
P2RX3	5024	broad.mit.edu	37	11	57137455	57137455	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:57137455C>T	ENST00000263314.2	+	12	1213	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	393					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGGGGGCCTTCTCCATAGGCC	0.612000													14	9					0	0	0.000219431	0	0
BAGE2	85319	broad.mit.edu	37	21	11038861	11038861	+	RNA	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr21:11038861G>A	ENST00000470054.1	-	0	1342									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAGCTGAAGGGTAATTACGCA	0.438000													144	266					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179598041	179598041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179598041C>T	ENST00000589042.1	-	54	16203	c.15979G>A	c.(15979-15981)Gac>Aac	p.D5327N	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4083N|TTN_ENST00000591111.1_Missense_Mutation_p.D5010N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5010	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCCACTGTCGTGCAGCTCA	0.398000													42	60					0	0	0.000437636	0	0
TPTEP1	387590	broad.mit.edu	37	22	17117968	17117968	+	RNA	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr22:17117968C>T	ENST00000426585.1	+	0	268																											ATTATATCATCCTTTGCATTT	0.348000													26	47					0	0	0.000339439	0	0
MAN1A2	10905	broad.mit.edu	37	1	117984892	117984892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:117984892C>T	ENST00000356554.3	+	6	1630	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	299					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGAGAAACTCCTTCCTGCCTT	0.343000													70	65					0	0	0.000781405	0	0
BCAT1	586	broad.mit.edu	37	12	24985744	24985744	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:24985744G>A	ENST00000261192.7	-	9	1483	c.957C>T	c.(955-957)gcC>gcT	p.A319A	BCAT1_ENST00000539282.1_Silent_p.A331A|BCAT1_ENST00000342945.5_Silent_p.A258A|BCAT1_ENST00000539780.1_Silent_p.A282A|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000538118.1_Silent_p.A318A	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	319					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCCCCTCCAGGGCTGTTGTCA	0.423000													7	5					0	0	8.12818e-05	0	0
KITLG	4254	broad.mit.edu	37	12	88912503	88912503	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:88912503C>A	ENST00000347404.5	-	4	906	c.334G>T	c.(334-336)Gtg>Ttg	p.V112L	KITLG_ENST00000228280.5_Missense_Mutation_p.V112L|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	112					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ACGCACTCCACAAGGTCATCC	0.373000									Testicular Cancer, Familial Clustering of				25	60					3.69857e-22	3.84137e-21	0.001512	1	0
MYH7	4625	broad.mit.edu	37	14	23898283	23898283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:23898283C>T	ENST00000355349.3	-	14	1450	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	430	Myosin head-like.		A -> E (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCATACACTGCCTTGGCCAGT	0.537000													39	20					0	0	0.000781405	0	0
SLX4	84464	broad.mit.edu	37	16	3640985	3640985	+	Missense_Mutation	SNP	G	G	T	rs147492092	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:3640985G>T	ENST00000294008.3	-	12	3294	c.2654C>A	c.(2653-2655)cCg>cAg	p.P885Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	885	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCAGAAACCGGACTGCCACC	0.582000								Direct reversal of damage					17	36					5.3912e-06	5.49256e-05	0.00074312	1	0
GRHL2	79977	broad.mit.edu	37	8	102611373	102611373	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:102611373G>A	ENST00000251808.3	+	8	1430	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E	GRHL2_ENST00000395927.1_Silent_p.E348E	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	364						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGAATGAAGAGGCGAAGGTGA	0.378000													12	24					0	0	0.00185496	0	0
MORC4	79710	broad.mit.edu	37	X	106243183	106243183	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:106243183C>A	ENST00000355610.4	-	1	291	c.17G>T	c.(16-18)gGg>gTg	p.G6V	MORC4_ENST00000535534.1_5'UTR|MORC4_ENST00000255495.7_Missense_Mutation_p.G6V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	6							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ggcgggggccccTCGGTACAG	0.771000													15	25					1.37285e-15	1.42191e-14	0.000422831	1	0
KMT2D	8085	broad.mit.edu	37	12	49434624	49434624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:49434624G>A	ENST00000301067.7	-	31	6928	c.6929C>T	c.(6928-6930)cCc>cTc	p.P2310L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCTGAGGAGGGTGAGTCAAC	0.607000													9	20					0	0	0.000274275	0	0
OR2T12	127064	broad.mit.edu	37	1	248458252	248458252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248458252G>A	ENST00000317996.1	-	1	628	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAGGATGAGGGAAAAGGGGAC	0.547000													11	64					0	0	0.000219431	0	0
SYNE1	23345	broad.mit.edu	37	6	152847225	152847225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:152847225C>T	ENST00000367255.5	-	5	816	c.215G>A	c.(214-216)gGg>gAg	p.G72E	SYNE1_ENST00000413186.2_Missense_Mutation_p.G72E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G72E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G72E|SYNE1_ENST00000367248.3_Missense_Mutation_p.G72E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G72E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G72E|SYNE1_ENST00000466159.2_Missense_Mutation_p.G72E|SYNE1_ENST00000367253.4_Missense_Mutation_p.G72E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	72	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGTTTCTGCCCAGACAGGAC	0.428000										HNSCC(10;0.0054)			25	38					0	0	0.000878237	0	0
TMC7	79905	broad.mit.edu	37	16	19070812	19070812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:19070812C>T	ENST00000421369.3	+	15	2330	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	TMC7_ENST00000304381.5_Missense_Mutation_p.S701F|TMC7_ENST00000569532.1_Missense_Mutation_p.S701F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	701						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGCAGCTATCCCTGGTAAGG	0.512000													53	92					0	0	0.000781405	0	0
IL3RA	3563	broad.mit.edu	37	X	1460723	1460723	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:1460723G>A	ENST00000331035.4	+	2	413		c.e2+1		IL3RA_ENST00000381469.2_Splice_Site	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)							integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGAAGGAAGGTAAGAACTGG	0.582000													44	84					0	0	0.000781405	0	0
TMEM8C	389827	broad.mit.edu	37	9	136384008	136384008	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:136384008G>A	ENST00000339996.3	-	3	488	c.387C>T	c.(385-387)atC>atT	p.I129I	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	129						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ACTTTGCCGCGATGATGAGGA	0.617000													19	7					0	0	0.00121646	0	0
PAPD5	64282	broad.mit.edu	37	16	50259099	50259099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:50259099G>A	ENST00000357464.3	+	11	1421	c.1421G>A	c.(1420-1422)aGa>aAa	p.R474K	PAPD5_ENST00000436909.3_Missense_Mutation_p.R553K|PAPD5_ENST00000561678.1_Missense_Mutation_p.R443K|PAPD5_ENST00000573002.1_Intron			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	443	Ser-rich.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			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)		GGAAAATGTAGAAGTAAAACC	0.383000													12	28					0	0	0.000978159	0	0
EBF3	253738	broad.mit.edu	37	10	131639281	131639281	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:131639281T>G	ENST00000368648.3	-	14	1433	c.1361A>C	c.(1360-1362)aAt>aCt	p.N454T	EBF3_ENST00000355311.5_Missense_Mutation_p.N463T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	463					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCTGCTTGTATTGCGACTGTA	0.522000													29	51					0	0	0.000409698	0	0
CPAMD8	27151	broad.mit.edu	37	19	17049249	17049249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17049249C>T	ENST00000443236.1	-	23	2973	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	934						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGGGGGACTCCTTCCGCCTG	0.602000													3	7					0	0	0.000602214	0	0
ITGA11	22801	broad.mit.edu	37	15	68641186	68641186	+	Silent	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:68641186A>G	ENST00000423218.2	-	10	1208	c.1113T>C	c.(1111-1113)ttT>ttC	p.F371F	ITGA11_ENST00000315757.7_Silent_p.F371F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	371					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CGTGCGAGGAAAAGCCCGTCT	0.567000													9	2					0	0	0.000673444	0	0
OR5M9	390162	broad.mit.edu	37	11	56230020	56230020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:56230020C>T	ENST00000279791.1	-	1	857	c.858G>A	c.(856-858)atG>atA	p.M286I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M286I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GACTGTAGATCATGGGATTCA	0.423000													27	46					0	0	0.000720815	0	0
SNORD113-7	767567	broad.mit.edu	37	14	101407515	101407515	+	RNA	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:101407515C>T	ENST00000363762.1	+	0	53					NR_003235.1																						TCTGATTATACCCTGTCTGTA	0.363000													83	24					0	0	0.000781405	0	0
MEP1A	4224	broad.mit.edu	37	6	46800954	46800954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:46800954C>T	ENST00000230588.4	+	11	1297	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	430	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GACAGAAACCCCCTGCCCCAC	0.517000													43	45					0	0	0.000781405	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220332750	220332750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:220332750G>A	ENST00000358951.2	-	29	3355	c.3239C>T	c.(3238-3240)cCa>cTa	p.P1080L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1080					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTATCTTTTGGTGATTTTCC	0.279000													25	38					0	0	0.000878237	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883267	228883267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:228883267G>A	ENST00000392056.3	-	7	2349	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S768F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	768						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)		GCTGCTGGAGGATTCAGTGGC	0.493000													48	76					0	0	0.000781405	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819924	159819924	+	RNA	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:159819924G>A	ENST00000497452.1	-	0	517																											AACCTATGGGGAAGACTCTGA	0.408000													16	31					0	0	0.000308642	0	0
CASR	846	broad.mit.edu	37	3	121973151	121973151	+	Missense_Mutation	SNP	C	C	T	rs121909262		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:121973151C>T	ENST00000498619.1	+	2	553	c.115C>T	c.(115-117)Cct>Tct	p.P39S	CASR_ENST00000296154.5_Missense_Mutation_p.P39S|CASR_ENST00000490131.1_Missense_Mutation_p.P39S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	39			P -> A (in FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGGCTCTTTCCTATTCATTT	0.527000													34	50					0	0	0.000814825	0	0
SLC6A13	6540	broad.mit.edu	37	12	333178	333178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:333178C>T	ENST00000343164.4	-	11	1343	c.1291G>A	c.(1291-1293)Ggg>Agg	p.G431R	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.G339R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	431					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGATCAGCCCCACAAGGAAG	0.592000													11	29					0	0	0.00136819	0	0
ACSM4	341392	broad.mit.edu	37	12	7477098	7477098	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:7477098C>T	ENST00000399422.4	+	11	1488	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	480					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TCTTCAGGTACCGTATTGGGC	0.463000													19	33					0	0	0.00152264	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114190594	114190594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:114190594G>A	ENST00000369405.3	-	11	1633	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*	ZDHHC6_ENST00000369404.3_Nonsense_Mutation_p.Q400*|ZDHHC6_ENST00000482410.1_5'UTR	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	404						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TCTGGGGCTTGATCTGTTTCA	0.368000													39	62					0	0	0.000781405	0	0
PHF3	23469	broad.mit.edu	37	6	64421505	64421505	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:64421505C>T	ENST00000262043.3	+	16	4361	c.4021C>T	c.(4021-4023)Cta>Tta	p.L1341L	PHF3_ENST00000393387.1_Silent_p.L1341L			Q92576	PHF3_HUMAN	PHD finger protein 3	1341					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAGACCTAATCTATTGTTGGG	0.373000													43	71					0	0	0.000680045	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800808	93800808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93800808C>T	ENST00000315765.9	+	5	963	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	319	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGAGGGCATCGGACTGATGT	0.473000													58	93					0	0	0.000781405	0	0
C19orf18	147685	broad.mit.edu	37	19	58472777	58472777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:58472777C>T	ENST00000314391.3	-	5	615	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	172						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATGAACTTTTCCAGCTCATTT	0.488000													27	12					0	0	0.000339439	0	0
KATNAL2	83473	broad.mit.edu	37	18	44580798	44580798	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr18:44580798G>A	ENST00000245121.5	+	3	299	c.105G>A	c.(103-105)ggG>ggA	p.G35G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.G107G	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	107	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GAAGTAGAGGGAAGACCAGAA	0.398000													82	52					0	0	0.000781405	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367882	64367882	+	Silent	SNP	C	C	T	rs61743169	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:64367882C>T	ENST00000377574.1	+	8	2076	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	SLC22A12_ENST00000377572.1_Silent_p.G335G|SLC22A12_ENST00000336464.7_Silent_p.G409G|SLC22A12_ENST00000377567.2_Silent_p.G335G|SLC22A12_ENST00000473690.1_Silent_p.G222G	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	443					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGGGGCTGGGCGGGGTGGGGG	0.652000													7	19					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9046631	9046631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:9046631C>T	ENST00000397910.4	-	5	35203	c.35000G>A	c.(34999-35001)gGg>gAg	p.G11667E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11669	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTGTGTCCCAGGATGGGT	0.517000													23	71					0	0	0.00188189	0	0
DPH1	1801	broad.mit.edu	37	17	1943613	1943613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:1943613C>T	ENST00000263083.6	+	8	911	c.866C>T	c.(865-867)tCc>tTc	p.S289F	DPH1_ENST00000570477.1_Missense_Mutation_p.S209F	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	289					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCAGCTAAGTCCTGGGGCCTT	0.577000													21	21					0	0	0.00121646	0	0
MTUS2	23281	broad.mit.edu	37	13	29600817	29600817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr13:29600817C>T	ENST00000431530.3	+	1	2070	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	661	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTGGACGCCTCGCTGGTTCCA	0.587000													8	13					0	0	0.000157383	0	0
MCTP1	79772	broad.mit.edu	37	5	94207063	94207063	+	Missense_Mutation	SNP	C	C	T	rs145448158		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:94207063C>T	ENST00000515393.1	-	14	2095	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	MCTP1_ENST00000312216.8_Missense_Mutation_p.R478Q|MCTP1_ENST00000505208.1_Missense_Mutation_p.R478Q|MCTP1_ENST00000505078.1_Missense_Mutation_p.R215Q|MCTP1_ENST00000429576.2_Missense_Mutation_p.R432Q	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	699	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTCAGCACTTCGATCCCGATC	0.353000													28	38					0	0	0.00178596	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741694	140741694	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:140741694C>T	ENST00000522605.1	+	1	1992	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCGGATAGCC	0.652000													19	6					0	0	0.000586117	0	0
MYO9B	4650	broad.mit.edu	37	19	17295779	17295779	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17295779A>G	ENST00000595618.1	+	17	2631	c.2479A>G	c.(2479-2481)Atc>Gtc	p.I827V	MYO9B_ENST00000397274.2_Missense_Mutation_p.I827V|MYO9B_ENST00000594824.1_Missense_Mutation_p.I827V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	827	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCACCAAGCATCAGCGCCCA	0.582000													38	62					0	0	0.00195071	0	0
TM4SF4	7104	broad.mit.edu	37	3	149193692	149193692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:149193692G>A	ENST00000305354.4	+	2	1161	c.257G>A	c.(256-258)cGa>cAa	p.R86Q		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	86						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGTGGGAAGCGATTTGCGGTG	0.552000													9	6					0	0	0.000978159	0	0
TP53	7157	broad.mit.edu	37	17	7579310	7579310	+	Splice_Site	SNP	A	A	G	rs68140816		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:7579310A>G	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGCAACTGACCGTGCAAGT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	12					0	0	0.000720815	0	0
FAM71F1	84691	broad.mit.edu	37	7	128370028	128370028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:128370028G>A	ENST00000315184.5	+	6	979	c.926G>A	c.(925-927)gGa>gAa	p.G309E	FAM71F1_ENST00000485070.1_Missense_Mutation_p.G208E	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	309										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTCACGTACGGAGAGTGGGAA	0.557000													30	97					0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179583192	179583192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179583192G>A	ENST00000589042.1	-	85	24865	c.24641C>T	c.(24640-24642)tCt>tTt	p.S8214F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6970F|TTN_ENST00000591111.1_Missense_Mutation_p.S7897F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7897	Ig-like 64.						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)			GCATCTCTCAGATTGTGAAAT	0.423000													21	29					0	0	0.000295444	0	0
OR5F1	338674	broad.mit.edu	37	11	55761196	55761196	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:55761196C>T	ENST00000278409.1	-	1	905	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAATTACATTCGCTAAAGCCT	0.383000													10	29					0	0	0.000978159	0	0
ANK1	286	broad.mit.edu	37	8	41550168	41550168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:41550168C>T	ENST00000396942.1	-	31	3939	c.3856G>A	c.(3856-3858)Gag>Aag	p.E1286K	ANK1_ENST00000289734.7_Missense_Mutation_p.E1286K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1286K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1286K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1286K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1327K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1286K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1286			E -> D.		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGTTACCTCTATGTCCCTG	0.597000													88	163					0	0	0.000781405	0	0
SPEG	10290	broad.mit.edu	37	2	220354210	220354210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:220354210C>T	ENST00000312358.7	+	36	8602	c.8470C>T	c.(8470-8472)Ccc>Tcc	p.P2824S	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2824	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTCATCTCCCCCCACACC	0.692000													18	19					0	0	0.000958276	0	0
POM121L12	285877	broad.mit.edu	37	7	53104047	53104047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:53104047C>T	ENST00000408890.4	+	1	699	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	228										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGGTTGCTTCCTTCGTGCCC	0.642000													19	42					0	0	0.000958276	0	0
ACBD3	64746	broad.mit.edu	37	1	226349248	226349248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:226349248G>A	ENST00000366812.5	-	4	766	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	238	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.R238W(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGCTCCAACCGAAGcctttct	0.408000													34	32					0	0	0.00128727	0	0
VRTN	55237	broad.mit.edu	37	14	74824954	74824954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:74824954G>A	ENST00000256362.4	+	2	1709	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	490					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CACAGGTGAGGACCCTCCCGC	0.662000													59	16					0	0	0.000781405	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182218	5182218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:5182218C>T	ENST00000274181.7	+	4	701	c.563C>T	c.(562-564)tCa>tTa	p.S188L	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S188L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	188					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCACACCTCTCATGGAAACTC	0.502000													20	19					0	0	0.00152264	0	0
PITPNM1	9600	broad.mit.edu	37	11	67270001	67270001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:67270001C>T	ENST00000356404.3	-	3	492	c.267G>A	c.(265-267)tgG>tgA	p.W89*	PITPNM1_ENST00000534749.1_Nonsense_Mutation_p.W89*|PITPNM1_ENST00000436757.2_Nonsense_Mutation_p.W89*	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	89					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						GGTAGGCATTCCAGGATTCCT	0.642000													25	30					0	0	0.000586117	0	0
SLC4A7	9497	broad.mit.edu	37	3	27433266	27433266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:27433266G>A	ENST00000295736.5	-	21	3194	c.3124C>T	c.(3124-3126)Ctt>Ttt	p.L1042F	SLC4A7_ENST00000446700.1_Missense_Mutation_p.L1034F|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L918F|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L1038F|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L927F|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L1051F|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L923F|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L923F|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L1038F|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L592F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1042						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CCCATATAAAGGAAAACACCA	0.284000													11	19					0	0	0.00185496	0	0
SLC16A13	201232	broad.mit.edu	37	17	6942182	6942182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:6942182G>A	ENST00000308027.6	+	3	1363	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	352						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GAGAGCATCGGGGGGCTGCTG	0.577000													63	36					0	0	0.000781405	0	0
AKR1C1	1645	broad.mit.edu	37	10	5009146	5009146	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:5009146T>G	ENST00000380872.4	+	3	472	c.280T>G	c.(280-282)Ttg>Gtg	p.L94V	AKR1C1_ENST00000434459.2_Missense_Mutation_p.L94V|AKR1C1_ENST00000380859.1_Missense_Mutation_p.L96V|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						TCGACCAGAGTTGGTCCGACC	0.413000													7	84					0	0	0.000274275	0	0
MXRA5	25878	broad.mit.edu	37	X	3240932	3240932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:3240932C>T	ENST00000217939.6	-	5	2948	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	932						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGGCTTTTCATAGACTGTG	0.507000													24	52					0	0	0.000720815	0	0
ZNF812	729648	broad.mit.edu	37	19	9801776	9801776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:9801776C>T	ENST00000457674.2	-	5	921	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	135	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTGGAAAGTTCCTGTCCAATA	0.398000													16	27					0	0	0.00074312	0	0
TMEM26	219623	broad.mit.edu	37	10	63170087	63170087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:63170087G>A	ENST00000399298.3	-	6	1468	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	367						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TAACTAAGGGGTGTGGTGGGA	0.557000													18	24					0	0	0.000958276	0	0
NME8	51314	broad.mit.edu	37	7	37936528	37936528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:37936528G>A	ENST00000199447.4	+	17	1973	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R534Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	534	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAATGGAGACGATTGATGGGC	0.458000													73	56					0	0	0.000781405	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445613	42445613	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:42445613G>C	ENST00000381668.5	-	33	3323	c.3092C>G	c.(3091-3093)gCc>gGc	p.A1031G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1016G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1031					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATCGGAATGGCAGGCCACAG	0.448000													14	12					0	0	0.000422831	0	0
C11orf82	220042	broad.mit.edu	37	11	82644950	82644950	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:82644950A>G	ENST00000533655.1	+	6	2782	c.2570A>G	c.(2569-2571)cAt>cGt	p.H857R	C11orf82_ENST00000430323.2_Missense_Mutation_p.H857R|C11orf82_ENST00000329143.3_Missense_Mutation_p.H556R|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	857					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GCTGAGTGCCATGAAACTGAT	0.408000													19	30					0	0	0.00188189	0	0
OR2W3	343171	broad.mit.edu	37	1	248059344	248059344	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248059344G>A	ENST00000537741.1	+	3	713	c.456G>A	c.(454-456)ggG>ggA	p.G152G	OR2W3_ENST00000360358.3_Silent_p.G152G			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGGCTGTGGGGTGGCCAACT	0.632000													7	35					0	0	8.12818e-05	0	0
AMER1	139285	broad.mit.edu	37	X	63411267	63411267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:63411267G>A	ENST00000330258.3	-	2	2172	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	AMER1_ENST00000374869.3_Missense_Mutation_p.R634C|AMER1_ENST00000403336.1_Missense_Mutation_p.R634C	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCTCTACAACGAACCTCTCGG	0.612000													16	23					0	0	0.000958276	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14639981	14639981	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:14639981G>A	ENST00000380916.3	-	8	1000	c.534C>T	c.(532-534)gcC>gcT	p.A178A		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	178					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		GTCTCATTATGGCCAATTCAT	0.333000													36	79					0	0	0.00111076	0	0
SPG7	6687	broad.mit.edu	37	16	89598932	89598932	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:89598932C>T	ENST00000268704.2	+	9	1227	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	SPG7_ENST00000341316.2_Silent_p.I404I	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	404					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CCCCCTGCATCGTCTACATCG	0.617000													38	45					0	0	0.000953801	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114652	73114652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:73114652C>T	ENST00000356692.5	+	9	1286	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	PPP4R2_ENST00000394284.3_Nonsense_Mutation_p.Q288*|PPP4R2_ENST00000295862.9_Nonsense_Mutation_p.Q289*			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	345	Glu-rich.				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGAAAATAATCAAATGGAGGA	0.373000													40	91					0	0	0.000437636	0	0
SEMA3A	10371	broad.mit.edu	37	7	83689827	83689827	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:83689827C>T	ENST00000265362.3	-	5	815	c.501G>A	c.(499-501)ggG>ggA	p.G167G	SEMA3A_ENST00000436949.1_Silent_p.G167G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	167	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGGACTCTTCCCACGGCCGT	0.348000													126	95					0	0	0.000781405	0	0
GABPB2	126626	broad.mit.edu	37	1	151070438	151070438	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:151070438C>T	ENST00000368918.3	+	5	913	c.582C>T	c.(580-582)ctC>ctT	p.L194L	GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Silent_p.L194L|GABPB2_ENST00000368917.1_Silent_p.L194L	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	194					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TTGTTAACCTCGCAAGCCTTA	0.413000													42	58					0	0	0.000680045	0	0
TET2	54790	broad.mit.edu	37	4	106157973	106157973	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:106157973G>A	ENST00000513237.1	+	3	3734	c.2937G>A	c.(2935-2937)caG>caA	p.Q979Q	TET2_ENST00000380013.4_Silent_p.Q958Q|TET2_ENST00000413648.2_Silent_p.Q958Q|TET2_ENST00000394764.1_Silent_p.Q958Q|TET2_ENST00000305737.2_Silent_p.Q958Q|TET2_ENST00000540549.1_Silent_p.Q958Q|TET2_ENST00000545826.1_Silent_p.Q958Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	958					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATCTCTTACAGAAGCAAGAAC	0.507000			"""Mis N, F"""		MDS								22	10					0	0	0.00188189	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834325	101834325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:101834325G>A	ENST00000506729.1	-	1	395	c.224C>T	c.(223-225)tCc>tTc	p.S75F	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S75F|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S75F|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S75F|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S75F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	75						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)		CGGCTTCTTGGAAACTGAGGA	0.507000													56	66					0	0	0.000781405	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731167	185731167	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:185731167C>T	ENST00000302277.6	+	2	777	c.183C>T	c.(181-183)ctC>ctT	p.L61L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	61						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACTGTGAACTCTGTGACAAGC	0.368000													15	31					0	0	0.000308642	0	0
SLC22A18	5002	broad.mit.edu	37	11	2943376	2943376	+	Silent	SNP	G	G	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:2943376G>T	ENST00000380574.1	+	9	1340	c.909G>T	c.(907-909)tcG>tcT	p.S303S	SLC22A18_ENST00000347936.2_Silent_p.S303S|SLC22A18_ENST00000312221.5_Silent_p.S303S|SLC22A18_ENST00000449793.2_Silent_p.S205S|SLC22A18_ENST00000441077.1_3'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	303					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCCACTTCTCGGAGGAGGTGC	0.667000													8	241					0.000978159	0.00980519	0.000978159	1	0
N4BP3	23138	broad.mit.edu	37	5	177548809	177548809	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:177548809A>G	ENST00000274605.5	+	5	1801	c.1442A>G	c.(1441-1443)gAg>gGg	p.E481G		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	481						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGGCCAGGAGCAGGCGCTG	0.672000													7	3					0	0	8.12818e-05	0	0
APC	324	broad.mit.edu	37	5	112179639	112179639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:112179639C>T	ENST00000457016.1	+	16	8728	c.8348C>T	c.(8347-8349)cCt>cTt	p.P2783L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P2783L|APC_ENST00000257430.4_Missense_Mutation_p.P2783L			P25054	APC_HUMAN	adenomatous polyposis coli	2783	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAGTGACTCCTTTTAATTAC	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			28	49					0	0	0.000339439	0	0
PML	5371	broad.mit.edu	37	15	74328066	74328066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:74328066C>T	ENST00000268059.6	+	8	2360	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000354026.6_Missense_Mutation_p.S707F|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CTCCCCTTCTCCTCCATGGCT	0.622000			T	"""RARA, PAX5"""	"""APL, ALL"""								25	39					0	0	0.00047179	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654865	94654865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:94654865C>T	ENST00000260526.6	-	14	1665	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	495					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGGCAGGTCCAAATCCTGAA	0.348000													13	32					0	0	0.000219431	0	0
SPEF2	79925	broad.mit.edu	37	5	35792539	35792539	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:35792539C>T	ENST00000440995.2	+	31	4530	c.4530C>T	c.(4528-4530)acC>acT	p.T1510T	SPEF2_ENST00000356031.3_Silent_p.T1515T|SPEF2_ENST00000303129.4_Silent_p.T312T|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1515					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCACCTTACCCAACCTGAAG	0.353000													26	19					0	0	0.000720815	0	0
ME1	4199	broad.mit.edu	37	6	84056034	84056034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:84056034C>T	ENST00000369705.3	-	5	574	c.458G>A	c.(457-459)gGa>gAa	p.G153E	ME1_ENST00000541327.1_5'UTR|ME1_ENST00000543031.1_Missense_Mutation_p.G78E	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	153					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AATACGCTCTCCATCAGTCAC	0.423000													8	22					0	0	0.000274275	0	0
SPAM1	6677	broad.mit.edu	37	7	123594216	123594216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:123594216G>A	ENST00000340011.5	+	3	949	c.592G>A	c.(592-594)Gat>Aat	p.D198N	SPAM1_ENST00000460182.1_Missense_Mutation_p.D198N|SPAM1_ENST00000402183.2_Missense_Mutation_p.D198N|SPAM1_ENST00000223028.7_Missense_Mutation_p.D198N|SPAM1_ENST00000439500.1_Missense_Mutation_p.D198N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	198					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGCAGGGAAGGATTTCCTGGT	0.373000													18	58					0	0	0.00121646	0	0
TRRAP	8295	broad.mit.edu	37	7	98559085	98559085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:98559085C>T	ENST00000359863.4	+	45	6879	c.6670C>T	c.(6670-6672)Cca>Tca	p.P2224S	TRRAP_ENST00000355540.3_Missense_Mutation_p.P2206S|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2205S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2224	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCATTTTCCCAACAGAGCC	0.552000													46	50					0	0	0.000781405	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646720	122646720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:122646720G>A	ENST00000195173.4	-	8	1070	c.767C>T	c.(766-768)tCa>tTa	p.S256L	SEMA5B_ENST00000451055.2_Missense_Mutation_p.S310L|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S256L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	256	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTCCCGACCTGAGAAGTCGAT	0.607000													20	43					0	0	0.00152264	0	0
SLC25A12	8604	broad.mit.edu	37	2	172666182	172666182	+	Silent	SNP	A	A	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:172666182A>C	ENST00000422440.2	-	13	1276	c.1239T>G	c.(1237-1239)gtT>gtG	p.V413V	SLC25A12_ENST00000392592.4_Silent_p.V306V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	413					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ATTTGTCCCGAACAAAATCAT	0.393000													43	92					0	0	0.000680045	0	0
COL9A1	1297	broad.mit.edu	37	6	70944568	70944568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:70944568C>T	ENST00000357250.6	-	34	2346	c.2188G>A	c.(2188-2190)Gga>Aga	p.G730R	COL9A1_ENST00000370499.4_Missense_Mutation_p.G487R|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.G487R|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	730	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGTGGTCCTCTTGGTCCT	0.627000													11	16					0	0	0.00136819	0	0
PHYH	5264	broad.mit.edu	37	10	13336537	13336537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:13336537C>T	ENST00000396920.3	-	4	652	c.248G>A	c.(247-249)aGa>aAa	p.R83K	PHYH_ENST00000396913.2_Missense_Mutation_p.R2K|PHYH_ENST00000263038.4_Missense_Mutation_p.R102K			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	102			N -> Y (in RD).		fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GGTCACATCTCTCATTACTGT	0.398000													20	49					0	0	0.00121646	0	0
ECT2L	345930	broad.mit.edu	37	6	139159581	139159581	+	Missense_Mutation	SNP	C	C	T	rs116211453	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:139159581C>T	ENST00000423192.1	+	4	433	c.272C>T	c.(271-273)tCc>tTc	p.S91F	ECT2L_ENST00000541398.1_Missense_Mutation_p.S22F|ECT2L_ENST00000367682.2_Missense_Mutation_p.S91F			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	91	F-box.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TATATCTTTTCCTTTTTGAGT	0.423000			"""N, Splice, Mis"""		ETP ALL								16	35					0	0	0.000566183	0	0
ICK	22858	broad.mit.edu	37	6	52876951	52876951	+	Silent	SNP	G	G	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:52876951G>T	ENST00000356971.3	-	11	1716	c.1227C>A	c.(1225-1227)tcC>tcA	p.S409S	ICK_ENST00000350082.5_Silent_p.S409S	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	409					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTGTTGACCTGGAAATAAGAC	0.458000													27	45					1.16021e-09	1.19176e-08	0.00127121	1	0
MANBA	4126	broad.mit.edu	37	4	103556010	103556010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:103556010G>A	ENST00000226578.4	-	16	2449	c.2350C>T	c.(2350-2352)Ccg>Tcg	p.P784S	MANBA_ENST00000505239.1_Missense_Mutation_p.P727S	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	784					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAGTTGGTCGGGCTCAGGAGT	0.557000													15	8					0	0	0.00074312	0	0
SHPRH	257218	broad.mit.edu	37	6	146276122	146276122	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:146276122T>C	ENST00000367503.3	-	2	735	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	SHPRH_ENST00000275233.7_Missense_Mutation_p.K113E|SHPRH_ENST00000438092.2_Missense_Mutation_p.K113E|SHPRH_ENST00000367505.2_Missense_Mutation_p.K113E	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	113					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGAAATGCTTTCCAGGAATTA	0.333000													32	59					0	0	0.00178596	0	0
PTPRT	11122	broad.mit.edu	37	20	41385183	41385183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:41385183G>A	ENST00000373198.3	-	6	1013	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	PTPRT_ENST00000356100.2_Missense_Mutation_p.R260W|PTPRT_ENST00000373193.3_Missense_Mutation_p.R260W|PTPRT_ENST00000373184.1_Missense_Mutation_p.R260W|PTPRT_ENST00000373187.1_Missense_Mutation_p.R260W|PTPRT_ENST00000373190.1_Missense_Mutation_p.R260W|PTPRT_ENST00000373201.1_Missense_Mutation_p.R260W	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	260	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGACGCTCCGCTGGGCAGTG	0.607000													17	18					0	0	0.00074312	0	0
UROC1	131669	broad.mit.edu	37	3	126218899	126218899	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:126218899C>T	ENST00000290868.2	-	12	1297		c.e12+1		UROC1_ENST00000383579.3_Splice_Site	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1						histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		cttcctcctACCTGCTCTCTG	0.632000													10	25					0	0	0.000978159	0	0
CAPN6	827	broad.mit.edu	37	X	110496372	110496372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:110496372G>A	ENST00000324068.1	-	4	537	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	124	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGCCAGAAACGAAAGTGAAAT	0.403000													34	48					0	0	0.000953801	0	0
BMPER	168667	broad.mit.edu	37	7	34125516	34125516	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:34125516G>A	ENST00000297161.2	+	14	1931	c.1557G>A	c.(1555-1557)gtG>gtA	p.V519V	BMPER_ENST00000426693.1_Silent_p.V519V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	519	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGTTTGATGTGGATGACTTTG	0.473000													60	47					0	0	0.000781405	0	0
ZBTB37	84614	broad.mit.edu	37	1	173839909	173839909	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:173839909G>A	ENST00000367704.1	+	3	945	c.546G>A	c.(544-546)ctG>ctA	p.L182L	ZBTB37_ENST00000427304.1_Silent_p.L182L|ZBTB37_ENST00000367701.4_Silent_p.L182L|ZBTB37_ENST00000367702.1_Silent_p.L182L|ZBTB37_ENST00000432989.1_Silent_p.L182L			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GTGCTGTGCTGGATATCAGAG	0.532000													40	42					0	0	0.00170553	0	0
COL6A3	1293	broad.mit.edu	37	2	238267684	238267684	+	Silent	SNP	T	T	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:238267684T>A	ENST00000295550.4	-	20	6854	c.6402A>T	c.(6400-6402)ggA>ggT	p.G2134G	COL6A3_ENST00000472056.1_Silent_p.G1527G|COL6A3_ENST00000409809.1_Silent_p.G1928G|COL6A3_ENST00000347401.3_Silent_p.G1933G|COL6A3_ENST00000346358.4_Silent_p.G1934G|COL6A3_ENST00000353578.4_Silent_p.G1928G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2134	Collagen-like 2.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTACCCTTCTTCCAGGATTCC	0.418000													170	235					0	0	0.000781405	0	0
C9orf24	84688	broad.mit.edu	37	9	34379725	34379725	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:34379725A>T	ENST00000297623.2	-	6	906	c.708T>A	c.(706-708)tgT>tgA	p.C236*	C9orf24_ENST00000379133.3_Nonsense_Mutation_p.C101*|C9orf24_ENST00000379127.1_Missense_Mutation_p.V103E|C9orf24_ENST00000379124.1_Missense_Mutation_p.V103E|C9orf24_ENST00000379126.3_Missense_Mutation_p.V50E|C9orf24_ENST00000481295.1_5'UTR	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	236										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GTAGGGAGGTACACATCTGGA	0.587000											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	39					0	0	0.00047179	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150151	27150151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:27150151G>A	ENST00000288699.6	+	4	609	c.451G>A	c.(451-453)Gag>Aag	p.E151K	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E151K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	151					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGTGAGGGAGAAGGGTGT	0.542000													10	10					0	0	0.000978159	0	0
TERT	7015	broad.mit.edu	37	5	1272321	1272321	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:1272321C>T	ENST00000310581.5	-	7	2418	c.2361G>A	c.(2359-2361)agG>agA	p.R787R	TERT_ENST00000296820.5_Intron|TERT_ENST00000508104.2_Intron|TERT_ENST00000334602.6_Silent_p.R787R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	787	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGACGGCATCCCTCAGCGGGC	0.647000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				3	4					0	0	6.4e-05	0	0
MXRA5	25878	broad.mit.edu	37	X	3241563	3241563	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:3241563C>T	ENST00000217939.6	-	5	2317	c.2163G>A	c.(2161-2163)gaG>gaA	p.E721E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	721						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGGAACACCTCTTGGTCCT	0.473000													28	35					0	0	0.00106085	0	0
ESRP1	54845	broad.mit.edu	37	8	95683873	95683873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:95683873G>A	ENST00000433389.2	+	11	1616	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	ESRP1_ENST00000358397.5_Missense_Mutation_p.G476R|ESRP1_ENST00000454170.2_Missense_Mutation_p.G476R|ESRP1_ENST00000423620.2_Missense_Mutation_p.G476R	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	476	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCGTACTCATGGGGTTCACAT	0.398000													152	223					0	0	0.000781405	0	0
SSR1	6745	broad.mit.edu	37	6	7301720	7301720	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:7301720G>A	ENST00000244763.4	-	4	452	c.366C>T	c.(364-366)gcC>gcT	p.A122A	SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000479365.1_Silent_p.A122A|SSR1_ENST00000489567.1_Intron|SSR1_ENST00000397511.2_Silent_p.A122A|SSR1_ENST00000474597.1_Silent_p.A122A|SSR1_ENST00000534851.1_Silent_p.A95A|SSR1_ENST00000462112.1_Silent_p.A122A	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	122					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					AACGGAATGAGGCATCTAAGG	0.403000													36	86					0	0	0.000953801	0	0
COL15A1	1306	broad.mit.edu	37	9	101767302	101767302	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:101767302C>T	ENST00000375001.3	+	9	1746	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	441	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCTCCATGTCCGCCCAGAGCC	0.642000													18	8					0	0	0.00121646	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879201	209879201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:209879201G>A	ENST00000367028.2	+	3	303	c.134G>A	c.(133-135)gGg>gAg	p.G45E	HSD11B1_ENST00000367027.3_Missense_Mutation_p.G45E|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.G45E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	45					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GCCAGCAAAGGGATCGGAAGA	0.507000													22	52					0	0	0.00188189	0	0
CCDC67	159989	broad.mit.edu	37	11	93103287	93103287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93103287C>T	ENST00000298050.3	+	6	581	c.481C>T	c.(481-483)Cag>Tag	p.Q161*		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	161										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GATATTATATCAGACTCATCT	0.289000													7	12					0	0	0.000442599	0	0
DISP1	84976	broad.mit.edu	37	1	223178735	223178735	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:223178735C>T	ENST00000284476.6	+	8	4160	c.3996C>T	c.(3994-3996)atC>atT	p.I1332I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1332					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCACGCACATCCACCACTGTC	0.567000													162	191					0	0	0.000781405	0	0
CR1	1378	broad.mit.edu	37	1	207787809	207787809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:207787809G>A	ENST00000367049.4	+	40	6636	c.6636G>A	c.(6634-6636)tgG>tgA	p.W2212*	CR1_ENST00000367051.1_Nonsense_Mutation_p.W1762*|CR1_ENST00000367052.1_Nonsense_Mutation_p.W1762*|CR1_ENST00000367053.1_Nonsense_Mutation_p.W1762*|CR1_ENST00000400960.2_Nonsense_Mutation_p.W1762*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1762					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAGCCCTTTGGAATAGCAGTG	0.413000													12	42					0	0	0.000219431	0	0
LAMB1	3912	broad.mit.edu	37	7	107642205	107642205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:107642205G>A	ENST00000393561.1	-	1	267	c.83C>T	c.(82-84)cCa>cTa	p.P28L	LAMB1_ENST00000393560.1_Intron|LAMB1_ENST00000222399.6_Intron			P07942	LAMB1_HUMAN	laminin, beta 1	0					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACAGAGTTGGGGGGACACA	0.617000													5	21					0	0	0.000602214	0	0
CPPED1	55313	broad.mit.edu	37	16	12798735	12798735	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:12798735C>G	ENST00000381774.4	-	3	701	c.461G>C	c.(460-462)tGg>tCg	p.W154S	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	154							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GCCCCCGACCCAGAAGCTGAA	0.612000													19	29					0	0	0.000958276	0	0
GPD2	2820	broad.mit.edu	37	2	157439371	157439371	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:157439371G>C	ENST00000310454.6	+	17	2497	c.2125G>C	c.(2125-2127)Gaa>Caa	p.E709Q	GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000438166.2_Missense_Mutation_p.E709Q|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000409674.1_Missense_Mutation_p.E709Q|GPD2_ENST00000409125.4_Missense_Mutation_p.E482Q	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	709					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GAAAACTGCAGAAGAGAACCT	0.438000													6	72					0	0	0.000157383	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993562	140993562	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:140993562C>T	ENST00000285879.4	+	4	658	c.372C>T	c.(370-372)gtC>gtT	p.V124V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	124							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGGATGTCCAGTCTCCTC	0.502000										HNSCC(15;0.026)			31	63					0	0	0.001512	0	0
CALB2	794	broad.mit.edu	37	16	71411590	71411590	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:71411590C>T	ENST00000302628.4	+	4	359	c.282C>T	c.(280-282)acC>acT	p.T94T	CALB2_ENST00000349553.5_Silent_p.T94T	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	94	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TCCTGCCAACCGAAGAGAACT	0.547000													23	41					0	0	0.000720815	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95452438	95452438	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:95452438G>A	ENST00000359204.4	-	6	542	c.345C>T	c.(343-345)ttC>ttT	p.F115F	FRA10AC1_ENST00000536233.1_Silent_p.F115F|FRA10AC1_ENST00000394100.2_Silent_p.F115F|FRA10AC1_ENST00000371430.2_Silent_p.F115F	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	115						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CATTCCATAGGAATCTATGAT	0.358000													27	41					0	0	0.000339439	0	0
MUT	4594	broad.mit.edu	37	6	49416546	49416546	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:49416546T>G	ENST00000274813.3	-	7	1554	c.1427A>C	c.(1426-1428)cAa>cCa	p.Q476P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	476					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTCTAGCTTGTCTTCGGGC	0.338000													71	77					0	0	0.000781405	0	0
PADI4	23569	broad.mit.edu	37	1	17657550	17657550	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:17657550A>C	ENST00000375448.4	+	2	205	c.179A>C	c.(178-180)aAg>aCg	p.K60T	PADI4_ENST00000375453.1_Missense_Mutation_p.K60T|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	60					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCAGCCAAGAAGAAATCCACA	0.602000													7	66					0	0	0.000157383	0	0
NOTCH2	4853	broad.mit.edu	37	1	120548030	120548030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120548030G>A	ENST00000256646.2	-	3	556	c.337C>T	c.(337-339)Cga>Tga	p.R113*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.R74*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	113	EGF-like 3.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCAGGGTCGAGACACAAAG	0.547000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				110	651					0	0	0.000781405	0	0
GCOM1	145781	broad.mit.edu	37	15	57913876	57913876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:57913876G>A	ENST00000574161.1	+	4	508	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	GCOM1_ENST00000396180.1_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.R130Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.R130Q|POLR2M_ENST00000380563.2_Intron|MYZAP_ENST00000267853.5_Missense_Mutation_p.R130Q|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000572390.1_Missense_Mutation_p.R130Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.R130Q|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380568.3_Missense_Mutation_p.R130Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		130					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGAAGATTCGACAGCTCACC	0.468000													48	90					0	0	0.000781405	0	0
CPXM2	119587	broad.mit.edu	37	10	125521553	125521553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:125521553C>T	ENST00000241305.3	-	11	1766	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	538					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGGGTGTGTTCCTGCGTCTTC	0.652000													26	50					0	0	0.00127121	0	0
ZNF331	55422	broad.mit.edu	37	19	54080023	54080023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:54080023G>A	ENST00000253144.9	+	7	1542	c.209G>A	c.(208-210)aGg>aAg	p.R70K	ZNF331_ENST00000449416.1_Missense_Mutation_p.R70K|ZNF331_ENST00000512387.1_Missense_Mutation_p.R70K|ZNF331_ENST00000411977.2_Missense_Mutation_p.R70K|ZNF331_ENST00000511593.2_Missense_Mutation_p.R70K|ZNF331_ENST00000513999.1_Missense_Mutation_p.R70K|ZNF331_ENST00000511154.1_Missense_Mutation_p.R70K|ZNF331_ENST00000513265.1_Missense_Mutation_p.R70K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GCTTCCAAAAGGAATTCAGAT	0.388000			T	?	follicular thyroid adenoma								22	18					0	0	0.00188189	0	0
ZNF142	7701	broad.mit.edu	37	2	219507273	219507273	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:219507273C>G	ENST00000411696.2	-	7	4745	c.3966G>C	c.(3964-3966)gaG>gaC	p.E1322D	ZNF142_ENST00000449707.1_Missense_Mutation_p.E1322D			P52746	ZN142_HUMAN	zinc finger protein 142	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTCAGTGGTCTCTGCAGGAG	0.637000													16	29					0	0	0.00074312	0	0
KRTDAP	388533	broad.mit.edu	37	19	35979739	35979739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:35979739C>T	ENST00000338897.3	-	2	179	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	KRTDAP_ENST00000479340.1_5'UTR|KRTDAP_ENST00000484218.2_Missense_Mutation_p.E31K	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	31					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATGGTGCTTTCTTCCTGGAAA	0.572000													26	44					0	0	0.00178596	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032410	142032410	+	RNA	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:142032410C>T	ENST00000547918.2	+	0	263																											GCAGACAAATCGGGGCTTCCC	0.542000													6	9					0	0	8.12818e-05	0	0
TRRAP	8295	broad.mit.edu	37	7	98588089	98588089	+	Silent	SNP	T	T	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:98588089T>C	ENST00000359863.4	+	63	9824	c.9615T>C	c.(9613-9615)ctT>ctC	p.L3205L	TRRAP_ENST00000355540.3_Silent_p.L3176L|TRRAP_ENST00000446306.3_Silent_p.L3176L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3205	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTGTGGCTTTTGAGTTTTG	0.468000													41	94					0	0	0.000680045	0	0
UROC1	131669	broad.mit.edu	37	3	126218900	126218900	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:126218900C>T	ENST00000290868.2	-	12	1296	c.1243_splice	c.e12+1	p.G415_splice	UROC1_ENST00000383579.3_Splice_Site_p.G475_splice	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	415					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ttcctcctACCTGCTCTCTGG	0.632000													10	25					0	0	0.000978159	0	0
OR4B1	119765	broad.mit.edu	37	11	48238697	48238697	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:48238697G>A	ENST00000309562.2	+	1	354	c.336G>A	c.(334-336)ttG>ttA	p.L112L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGATCCTTTTGATTGTGGTGA	0.433000													46	96					0	0	0.000781405	0	0
ZNF334	55713	broad.mit.edu	37	20	45130122	45130122	+	Missense_Mutation	SNP	C	C	T	rs146816699	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:45130122C>T	ENST00000457685.2	-	6	3065	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	ZNF334_ENST00000593880.1_Missense_Mutation_p.R642K|ZNF334_ENST00000347606.4_Missense_Mutation_p.R619K			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTGAATTCTTCTATGGACTCT	0.428000													36	59					0	0	0.00111076	0	0
EEPD1	80820	broad.mit.edu	37	7	36320782	36320782	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:36320782G>C	ENST00000242108.4	+	4	1707	c.989G>C	c.(988-990)cGg>cCg	p.R330P	EEPD1_ENST00000534978.1_Missense_Mutation_p.R330P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	330					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AAGGGGCCCCGGGGATGCTGG	0.567000													31	35					0	0	0.000814825	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606092	21606092	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:21606092T>G	ENST00000281523.2	-	3	768	c.250A>C	c.(250-252)Att>Ctt	p.I84L	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	84						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AACTGGCAAATGTTGCATGAT	0.338000													28	34					0	0	0.001512	0	0
COL4A4	1286	broad.mit.edu	37	2	227915767	227915767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:227915767G>A	ENST00000396625.3	-	33	3283	c.3076C>T	c.(3076-3078)Cct>Tct	p.P1026S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1026S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1026	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGGTCCAGGAGGCCCTGGC	0.587000													35	52					0	0	0.00128727	0	0
ATOH1	474	broad.mit.edu	37	4	94751094	94751094	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:94751094G>A	ENST00000306011.3	+	1	1053	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	339					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GAAGCGACGGGGAATTTTCCC	0.517000													33	12					0	0	0.000814825	0	0
THOC2	57187	broad.mit.edu	37	X	122754786	122754786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:122754786G>A	ENST00000245838.8	-	32	4278	c.4247C>T	c.(4246-4248)cCt>cTt	p.P1416L	THOC2_ENST00000491737.1_Missense_Mutation_p.P1301L|THOC2_ENST00000355725.4_Missense_Mutation_p.P1416L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1416	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGATGGAGAAGGGTGAGTATC	0.398000													101	177					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179642182	179642182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179642182C>T	ENST00000589042.1	-	26	4834	c.4610G>A	c.(4609-4611)gGc>gAc	p.G1537D	TTN_ENST00000460472.2_Missense_Mutation_p.G1491D|TTN_ENST00000342175.6_Missense_Mutation_p.G1491D|TTN_ENST00000359218.5_Missense_Mutation_p.G1491D|TTN_ENST00000342992.6_Missense_Mutation_p.G1537D|TTN_ENST00000360870.5_Missense_Mutation_p.G1537D|TTN_ENST00000591111.1_Missense_Mutation_p.G1537D|RP11-88L24.4_ENST00000582038.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1537	Ig-like 6.						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)			TGAAGATCTGCCTGCCCTGTT	0.358000													15	30					0	0	0.000422831	0	0
RAG1	5896	broad.mit.edu	37	11	36597825	36597825	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:36597825C>T	ENST00000299440.5	+	2	3083	c.2971C>T	c.(2971-2973)Ctg>Ttg	p.L991L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	991					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGATGTCCTGAAACACCA	0.453000									Familial Hemophagocytic Lymphohistiocytosis				28	48					0	0	0.000878237	0	0
COL25A1	84570	broad.mit.edu	37	4	109971325	109971325	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:109971325C>T	ENST00000399132.1	-	4	908	c.378G>A	c.(376-378)ggG>ggA	p.G126G	COL25A1_ENST00000399126.1_Silent_p.G126G|COL25A1_ENST00000399127.1_Silent_p.G126G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	126	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TACCTCGTTTCCCTGGAGGGC	0.383000													29	17					0	0	0.00127121	0	0
BAGE2	85319	broad.mit.edu	37	21	11047514	11047514	+	RNA	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr21:11047514C>T	ENST00000470054.1	-	0	740									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTACAGATTTCATAATTCGTT	0.348000													19	353					0	0	0.00121646	0	0
CACNG3	10368	broad.mit.edu	37	16	24373178	24373178	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:24373178C>T	ENST00000005284.3	+	4	2144	c.942C>T	c.(940-942)ccC>ccT	p.P314P		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	314					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P314P(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCACCACGCCCGTCTGAACTG	0.552000													13	25					0	0	0.000308642	0	0
ZMYM6	9204	broad.mit.edu	37	1	35480717	35480717	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:35480717A>G	ENST00000357182.4	-	5	702	c.475T>C	c.(475-477)Tcc>Ccc	p.S159P	ZMYM6_ENST00000487874.1_Missense_Mutation_p.S159P|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.S159P	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	159					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CTAGGATAGGAATTCTCAAAG	0.313000													27	28					0	0	0.00127121	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543885	154543885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:154543885G>A	ENST00000368476.3	+	5	850	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	196					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CAGCCTGGACGACTTCACACC	0.582000													29	43					0	0	0.00106085	0	0
PAH	5053	broad.mit.edu	37	12	103240729	103240729	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:103240729C>T	ENST00000553106.1	-	9	1385	c.912_splice	c.e9-1	p.E305_splice	PAH_ENST00000307000.2_Splice_Site_p.E300_splice	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	305					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGGCCAATTTCCTGTAATTGG	0.493000													21	33					0	0	0.000586117	0	0
USP34	9736	broad.mit.edu	37	2	61454326	61454326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:61454326C>T	ENST00000398571.2	-	62	7547	c.7471G>A	c.(7471-7473)Gaa>Aaa	p.E2491K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2491					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			tcttccccttcttcctctGAT	0.358000													7	9					0	0	8.12818e-05	0	0
RYR1	6261	broad.mit.edu	37	19	39075739	39075739	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:39075739G>A	ENST00000355481.4	+	101	14919	c.14788_splice	c.e101+1	p.G4930_splice	RYR1_ENST00000360985.3_Splice_Site_p.G4930_splice|RYR1_ENST00000359596.3_Splice_Site_p.G4935_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4935					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCATCCAGGGTCAGTGCTG	0.592000													10	9					0	0	0.00136819	0	0
DDX26B	203522	broad.mit.edu	37	X	134690140	134690140	+	Silent	SNP	T	T	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:134690140T>C	ENST00000370752.4	+	9	1441	c.1107T>C	c.(1105-1107)ttT>ttC	p.F369F	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	369										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GATATCCATTTGGTTATTTAA	0.333000													52	71					0	0	0.000781405	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273371	145273371	+	Silent	SNP	T	T	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:145273371T>C	ENST00000369340.3	+	4	669	c.225T>C	c.(223-225)ccT>ccC	p.P75P	NOTCH2NL_ENST00000362074.6_Silent_p.P75P|NOTCH2NL_ENST00000344859.3_Silent_p.P75P|RP11-458D21.5_ENST00000468030.1_Silent_p.P75P			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	75	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTCTCGACCTTGCCTGAATG	0.547000													57	1942					0	0	0.000953801	0	0
CCDC141	285025	broad.mit.edu	37	2	179718295	179718295	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179718295G>A	ENST00000420890.2	-	20	3234	c.3117C>T	c.(3115-3117)tcC>tcT	p.S1039S	CCDC141_ENST00000295723.5_Silent_p.S464S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	464							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCACTCTGTGGAATATTTTC	0.403000													35	46					0	0	0.000491102	0	0
KMT2D	8085	broad.mit.edu	37	12	49421020	49421020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:49421020G>A	ENST00000301067.7	-	48	14728	c.14729C>T	c.(14728-14730)cCt>cTt	p.P4910L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTCTTCAGGAGGTGGGGCCGA	0.627000													50	73					0	0	0.000781405	0	0
ASTL	431705	broad.mit.edu	37	2	96799703	96799703	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:96799703C>T	ENST00000342380.2	-	4	337		c.e4+1			NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)						proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGCTCACTCACCGTACTTGCT	0.582000													7	13					0	0	0.000157383	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537318	5537318	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:5537318C>T	ENST00000380184.1	-	1	617	c.354G>A	c.(352-354)acG>acA	p.T118T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	118										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGGGATCATTCGTTGGCAGGT	0.547000													29	37					0	0	0.000339439	0	0
LPA	4018	broad.mit.edu	37	6	161016452	161016452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:161016452C>T	ENST00000447678.1	-	22	3523	c.3403G>A	c.(3403-3405)Gaa>Aaa	p.E1135K	LPA_ENST00000316300.5_Missense_Mutation_p.E1135K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3643	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACTTGATTCTGTCACCAGG	0.522000													63	83					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9057805	9057805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:9057805C>T	ENST00000397910.4	-	3	29844	c.29641G>A	c.(29641-29643)Gag>Aag	p.E9881K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9883	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCTAGTCTCCCTGAATCCA	0.478000													27	49					0	0	0.000878237	0	0
ATP2B3	492	broad.mit.edu	37	X	152815551	152815551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:152815551G>A	ENST00000370186.1	+	10	1914	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	ATP2B3_ENST00000263519.4_Missense_Mutation_p.E544K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E530K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E530K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E544K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E544K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	544					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAATAAGACGGAGTGCGCCCT	0.612000													12	20					0	0	0.000978159	0	0
GGA2	23062	broad.mit.edu	37	16	23489773	23489773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:23489773G>A	ENST00000309859.4	-	13	1290	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	403	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GCCTGGCAGCGTGCTGGAGGA	0.527000													24	46					0	0	0.00106085	0	0
PITX2	5308	broad.mit.edu	37	4	111542432	111542432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:111542432G>A	ENST00000354925.2	-	6	1983	c.278C>T	c.(277-279)aCc>aTc	p.T93I	PITX2_ENST00000394598.2_Missense_Mutation_p.T93I|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000355080.5_Missense_Mutation_p.T47I|PITX2_ENST00000306732.3_Missense_Mutation_p.T100I|PITX2_ENST00000557119.2_Missense_Mutation_p.T100I	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	93					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGCTGGCTGGTAAAGTGAGT	0.567000													27	8					0	0	0.000339439	0	0
CHD9	80205	broad.mit.edu	37	16	53190369	53190369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:53190369C>T	ENST00000566029.1	+	2	577	c.368C>T	c.(367-369)cCa>cTa	p.P123L	CHD9_ENST00000564845.1_Missense_Mutation_p.P123L|CHD9_ENST00000447540.1_Missense_Mutation_p.P123L|CHD9_ENST00000398510.3_Missense_Mutation_p.P123L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	123					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATGGCAGTCCAATGTGGGGC	0.408000													70	125					0	0	0.000781405	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190895	42190895	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42190895G>A	ENST00000006724.3	-	2	523	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	CEACAM7_ENST00000602225.1_Silent_p.L108L|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Silent_p.L108L|CEACAM7_ENST00000338196.4_Silent_p.L108L	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	108	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGGATCAGCAGGGTTCCATTG	0.418000													59	204					0	0	0.000781405	0	0
OIT3	170392	broad.mit.edu	37	10	74658714	74658714	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:74658714G>A	ENST00000334011.5	+	2	572	c.354G>A	c.(352-354)acG>acA	p.T118T		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	118						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGAACACCACGGTGGAAGTCA	0.577000													15	27					0	0	0.000422831	0	0
HTR2B	3357	broad.mit.edu	37	2	231973408	231973408	+	Silent	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:231973408C>T	ENST00000258400.3	-	4	1781	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	423					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ACTTAGAGTTCTCTGCCATTG	0.433000													23	41					0	0	0.000295444	0	0
NAP1L4	4676	broad.mit.edu	37	11	2991032	2991032	+	Splice_Site	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:2991032C>G	ENST00000380542.4	-	7	675		c.e7+1		NAP1L4_ENST00000526115.1_Splice_Site	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4						nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AGTGTGCTTACCTGGACTAAT	0.413000													145	220					0	0	0.000781405	0	0
NRG3	10718	broad.mit.edu	37	10	84745267	84745267	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:84745267C>A	ENST00000372142.2	+	11	1680	c.1406C>A	c.(1405-1407)gCc>gAc	p.A469D	NRG3_ENST00000404547.1_Missense_Mutation_p.A690D|NRG3_ENST00000404576.2_Missense_Mutation_p.A470D|NRG3_ENST00000372141.2_Missense_Mutation_p.A666D|NRG3_ENST00000537893.1_Missense_Mutation_p.A316D|NRG3_ENST00000545131.1_Missense_Mutation_p.A316D|NRG3_ENST00000556918.1_Missense_Mutation_p.A496D	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	690					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.A469D(1)|p.A666D(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAAACACAGCCTTTCTCCCC	0.493000													40	22					3.33393e-15	3.44353e-14	0.000953801	1	0
GOLGB1	2804	broad.mit.edu	37	3	121416568	121416568	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:121416568C>G	ENST00000393667.3	-	13	2912	c.2802G>C	c.(2800-2802)aaG>aaC	p.K934N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.K929N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	929					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTAAGAGTCTTAATTTCAA	0.358000													35	58					0	0	0.00128727	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688664	26688664	+	Silent	SNP	G	G	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr22:26688664G>A	ENST00000529632.2	+	2	583	c.387G>A	c.(385-387)agG>agA	p.R129R	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.R129R|SEZ6L_ENST00000404234.3_Silent_p.R129R|SEZ6L_ENST00000248933.6_Silent_p.R129R|SEZ6L_ENST00000343706.4_Silent_p.R129R|SEZ6L_ENST00000402979.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	129						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTCTGCCAGGAAGCAGCTGA	0.652000													17	16					0	0	0.000958276	0	0
OR2A5	393046	broad.mit.edu	37	7	143748423	143748423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:143748423C>T	ENST00000408906.2	+	1	963	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AAACAGAGATCAAAGTGAGGG	0.463000													28	28					0	0	0.00178596	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													5	5	---	---	---	---					
TMEM200B	399474	broad.mit.edu	37	1	29448162	29448162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:29448162delG	ENST00000420504.2	-	2	336	c.179delC	c.(178-180)ggfs	p.A60fs	TMEM200B_ENST00000521452.1_Frame_Shift_Del_p.A60fs	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	60						integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TACCACGAGCGCCCCCAGCGC	0.806													2	4	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													8	277	---	---	---	---					
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-	rs150759040	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)agfs	p.K514fs	CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597													7	752	---	---	---	---					
CTSE	1510	broad.mit.edu	37	1	206325342	206325342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:206325342delC	ENST00000361052.3	+	5	700	c.582delC	c.(580-582)tafs	p.Y194fs	CTSE_ENST00000432969.2_Frame_Shift_Del_p.Y114fs|CTSE_ENST00000358184.2_Frame_Shift_Del_p.Y189fs|CTSE_ENST00000360218.2_Frame_Shift_Del_p.Y189fs|CTSE_ENST00000468617.1_3'UTR			P14091	CATE_HUMAN	cathepsin E	194					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCCTGGGATACCCCTCCTTGG	0.517													50	45	---	---	---	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(334-339)ctttttfs	p.LF112fs	ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	112						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450													8	349	---	---	---	---					
GNB2	2783	broad.mit.edu	37	7	100274423	100274424	+	Splice_Site	DEL	GT	GT	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:100274423_100274424delGT	ENST00000303210.4	+	4	685		c.e4+1		GNB2_ENST00000424361.1_Splice_Site|GNB2_ENST00000393924.1_Splice_Site|GNB2_ENST00000427895.1_Intron|GNB2_ENST00000393926.1_Splice_Site|GNB2_ENST00000436220.1_Splice_Site|GNB2_ENST00000419828.1_Intron	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2						cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGACTCAAGGTGTGTGTGTGT	0.634													2	4	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:65493617_65493618insGGC	ENST00000321870.1	+	1	804_805	c.270_271insGGC	c.(268-273)aggcgg>agGGCgcgg	p.90_91RR>RAR	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	90	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782													2	4	---	---	---	---					
RP11-508N22.8	0	broad.mit.edu	37	10	38484517	38484518	+	RNA	INS	-	-	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:38484517_38484518insT	ENST00000423162.1	+	0	368																											ATTGTTATGAATTTTTTTCCCT	0.351													18	20	---	---	---	---					
BBS10	79738	broad.mit.edu	37	12	76740943	76740944	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:76740943_76740944delCT	ENST00000393262.3	-	2	904_905	c.821_822delAG	c.(820-822)gfs	p.E274fs		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	274					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTAGAATAAACTCTGATCCAGA	0.361									Bardet-Biedl syndrome				10	32	---	---	---	---					
PAFAH1B3	5050	broad.mit.edu	37	19	42801471	42801473	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42801471_42801473delTTC	ENST00000538771.1	-	6	809_811	c.453_455delGAA	c.(451-456)aac>aa	p.KN151del	PAFAH1B3_ENST00000262890.3_In_Frame_Del_p.KN151del	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	151					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CACCTGTCGGTTCTTCTCCCGAA	0.586													46	59	---	---	---	---