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
GALR3	8484	broad.mit.edu	37	22	38221104	38221104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:38221104C>T	ENST00000249041.2	+	2	759	c.734C>T	c.(733-735)gCg>gTg	p.A245V		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	245					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					GCGCTCTACGCGCTCTGCTGG	0.786000													3	13					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27059232	27059232	+	Silent	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:27059232A>G	ENST00000324856.7	+	4	2240	c.1869A>G	c.(1867-1869)ggA>ggG	p.G623G	ARID1A_ENST00000374152.2_Silent_p.G240G|ARID1A_ENST00000457599.2_Silent_p.G623G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	623					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTAAGGGAGGGCAAGAAG	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								35	92					0	0	1	0	0
SELO	83642	broad.mit.edu	37	22	50655514	50655514	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:50655514C>T	ENST00000380903.2	+	8	1860	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					AACTACATCGCGCAGAATGCC	0.667000													15	77					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47965129	47965129	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:47965129C>T	ENST00000318711.7	+	19	2442	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S	DIP2A_ENST00000400274.1_Silent_p.S748S|DIP2A_ENST00000466639.1_Silent_p.S709S|DIP2A_ENST00000435722.3_Silent_p.S752S|DIP2A_ENST00000417564.2_Silent_p.S752S|DIP2A_ENST00000427143.2_Silent_p.S688S|DIP2A_ENST00000457905.3_Silent_p.S752S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	752					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCGTCAGTTCCAGTGCAACTG	0.388000													8	50					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228495023	228495023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:228495023G>A	ENST00000570156.2	+	57	15202	c.15128G>A	c.(15127-15129)cGg>cAg	p.R5043Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4086Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4086Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1205Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1720Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4086					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACATAGCCCGGCTGTGCTGT	0.622000													15	89					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378031	55378031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:55378031G>A	ENST00000326321.3	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	405					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCATACA	0.512000													50	221					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52100401	52100401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:52100401G>A	ENST00000354534.5	+	11	1715	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	SCN8A_ENST00000550891.1_Missense_Mutation_p.E513K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E513K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	513					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGGGATCCCGAGAAGGTGTT	0.453000													3	17					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	19					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116497323	116497323	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr2:116497323C>G	ENST00000410059.1	+	9	1186	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	DPP10_ENST00000409163.1_Missense_Mutation_p.L186V|DPP10_ENST00000393147.2_Missense_Mutation_p.L240V|DPP10_ENST00000310323.8_Missense_Mutation_p.L229V|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	236					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGAACTCCTGCATTCTCA	0.458000													13	57					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46120937	46120937	+	Missense_Mutation	SNP	C	C	T	rs142161460		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:46120937C>T	ENST00000536630.1	-	16	1852	c.1714G>A	c.(1714-1716)Ggc>Agc	p.G572S	EML2_ENST00000589876.1_Missense_Mutation_p.G425S|EML2_ENST00000587152.1_Missense_Mutation_p.G626S|EML2_ENST00000245925.3_Missense_Mutation_p.G425S	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	425					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGTGGAAGCCGGCTGAGCGG	0.612000													5	27					0	0	1	0	0
PDZD9	255762	broad.mit.edu	37	16	21995685	21995685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:21995685G>A	ENST00000286143.6	-	5	833	c.512C>T	c.(511-513)tCt>tTt	p.S171F	PDZD9_ENST00000537222.2_Missense_Mutation_p.S173F|PDZD9_ENST00000424898.2_Missense_Mutation_p.S233F			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	233										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						AGAGGAGGAAGAGCTTTCATT	0.448000													47	208					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055668	29055668	+	Silent	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr18:29055668C>A	ENST00000257189.4	+	16	2528	c.2445C>A	c.(2443-2445)atC>atA	p.I815I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	815					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTTGTTGATCTATGATAATG	0.453000													27	43					2.24059e-21	2.42226e-21	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76572189	76572189	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:76572189G>C	ENST00000307431.8	+	20	3554	c.3169G>C	c.(3169-3171)Gtg>Ctg	p.V1057L	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V1009L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V985L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.V1061L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1058	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTGCTTTTTGTGAGCTCCTT	0.388000													16	81					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56006598	56006598	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:56006598C>T	ENST00000244728.5	-	12	1924	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	COL21A1_ENST00000370819.1_Silent_p.G506G|COL21A1_ENST00000535941.1_Silent_p.G509G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	509					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACCATCTCGCCCTGGTTCTC	0.358000													20	39					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109449	228109449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:228109449C>T	ENST00000272164.5	-	4	878	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	290					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TCCAGGTGCACCAGCTCTGGA	0.692000													13	59					0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100211631	100211631	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr15:100211631A>T	ENST00000338042.6	+	4	681	c.362A>T	c.(361-363)gAt>gTt	p.D121V	MEF2A_ENST00000558812.1_Missense_Mutation_p.D53V|MEF2A_ENST00000453228.2_Missense_Mutation_p.D121V|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000449277.2_Missense_Mutation_p.D53V|MEF2A_ENST00000557942.1_Missense_Mutation_p.D121V|MEF2A_ENST00000557785.1_Missense_Mutation_p.D121V			Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	121					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CTAAATGAAGATAGTGATTTT	0.368000													10	60					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22068678	22068678	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:22068678G>A	ENST00000261200.4	-	5	739	c.740C>T	c.(739-741)gCa>gTa	p.A247V	ABCC9_ENST00000345162.2_Missense_Mutation_p.A247V|ABCC9_ENST00000261201.4_Missense_Mutation_p.A247V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	247					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTTCCAATTGCCTTCAGATC	0.363000													31	46					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66329094	66329094	+	RNA	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:66329094G>A	ENST00000513398.1	+	0	2258				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TAAGCACACCGTCTACAGCAT	0.567000													15	12					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220088829	220088829	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:220088829G>C	ENST00000366926.3	-	4	1581	c.1420C>G	c.(1420-1422)Cag>Gag	p.Q474E	SLC30A10_ENST00000536446.1_Missense_Mutation_p.Q229E|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	474					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGGTCCTCCTGAGTTTTGTTA	0.448000													53	147					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTCTCCCAGGACAGGCACAA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	18					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3493397	3493397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:3493397C>A	ENST00000174621.6	-	5	1031	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	SHPK_ENST00000572705.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.E250*|TRPV1_ENST00000571088.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.E250*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.E250*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.E250*			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	250					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGGGGCAGTTCACCTGCATGA	0.642000													13	10					4.36969e-10	4.59967e-10	1	1	0
SUCO	51430	broad.mit.edu	37	1	172558867	172558867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:172558867C>G	ENST00000367723.3	+	17	3206	c.3082C>G	c.(3082-3084)Ctt>Gtt	p.L1028V	SUCO_ENST00000263688.3_Missense_Mutation_p.L876V	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		AGAAGATGCCCTTTTGAGAGG	0.363000													44	88					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688728	26688728	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:26688728T>C	ENST00000529632.2	+	2	647	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	SEZ6L_ENST00000248933.6_Missense_Mutation_p.S151P|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S151P	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	151						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						CCAGCCAGCGTCCCAGGGCCT	0.662000													7	50					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029456	93029456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:93029456G>A	ENST00000523629.1	-	3	678	c.224C>T	c.(223-225)aCg>aTg	p.T75M	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T48M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T75M|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T86M|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T48M	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	75					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTACTTACACGTTGTCGGTGT	0.388000													29	64					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39080613	39080613	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:39080613G>A	ENST00000379907.4	+	14	1508	c.1381G>A	c.(1381-1383)Gct>Act	p.A461T	ADAM32_ENST00000519315.1_Missense_Mutation_p.A355T|ADAM32_ENST00000437682.2_Missense_Mutation_p.A362T	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	461	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGTGACATCGCTGAAAATTG	0.338000													10	9					0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30764756	30764756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:30764756A>G	ENST00000563588.1	+	6	673	c.434A>G	c.(433-435)cAt>cGt	p.H145R	PHKG2_ENST00000424889.3_Missense_Mutation_p.H145R|PHKG2_ENST00000328273.7_Missense_Mutation_p.H145R	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	145	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			AGCTTTCTCCATGCCAACAAC	0.557000													18	38					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85708805	85708805	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:85708805G>A	ENST00000322366.6	-	23	4138	c.3731C>T	c.(3730-3732)aCg>aTg	p.T1244M	WDFY3_ENST00000295888.4_Missense_Mutation_p.T1244M			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1244						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGCATAGACCGTGCTCACCAC	0.483000													15	42					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18440913	18440913	+	Silent	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr20:18440913G>T	ENST00000262547.5	-	3	355	c.147C>A	c.(145-147)ggC>ggA	p.G49G	DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000329494.5_Silent_p.G49G|DZANK1_ENST00000377630.5_5'UTR	NM_001099407.1	NP_001092877.1	Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	0						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CAGGTTTGCTGCCATCCAGAG	0.333000													3	8					0.004672	0.00471126	1	1	0
GARNL3	84253	broad.mit.edu	37	9	130027240	130027240	+	Silent	SNP	G	G	A	rs141855938		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:130027240G>A	ENST00000373387.4	+	1	436	c.84G>A	c.(82-84)tcG>tcA	p.S28S	GARNL3_ENST00000314904.5_Silent_p.S28S|GARNL3_ENST00000435213.2_Silent_p.S6S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCTGTCTCGGAAGACCTAG	0.423000													21	109					0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56772397	56772397	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:56772397A>T	ENST00000337432.4	+	2	322	c.251A>T	c.(250-252)aAg>aTg	p.K84M	RAD51C_ENST00000583539.1_Missense_Mutation_p.K84M|RAD51C_ENST00000421782.2_Missense_Mutation_p.K84M|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	84					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACACAAGAAGTGTACAGCA	0.433000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				20	52					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112670	81112670	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:81112670G>A	ENST00000228644.3	+	3	760	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	203					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCTTATCCAGCTTGGATTGC	0.448000													10	88					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510920	26510920	+	Silent	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:26510920G>A	ENST00000531191.1	+	11	1262	c.255G>A	c.(253-255)ctG>ctA	p.L85L	CNKSR1_ENST00000361530.6_Silent_p.L343L|CNKSR1_ENST00000374253.5_Silent_p.L350L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	350	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGCCCCTGCCCATCCCCC	0.637000													14	19					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475271	42475271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:42475271C>T	ENST00000434000.1	-	9	4222	c.3940G>A	c.(3940-3942)Ggc>Agc	p.G1314S	GPATCH8_ENST00000591680.1_Missense_Mutation_p.G1392S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1392						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGTGAATGCCGATGGCGGCA	0.567000													11	48					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171118	214171118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:214171118G>A	ENST00000366958.4	+	2	1848	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	PROX1_ENST00000435016.1_Missense_Mutation_p.D414N|PROX1_ENST00000261454.4_Missense_Mutation_p.D414N|PROX1_ENST00000498508.2_Missense_Mutation_p.D414N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	414					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGCTTTGGCGACGTCATCAT	0.562000													54	110					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397844	111397844	+	Nonsense_Mutation	SNP	C	C	T	rs143343563		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:111397844C>T	ENST00000265162.5	+	1	616	c.274C>T	c.(274-276)Cga>Tga	p.R92*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GAAAAACTTTCGACTGCCGGA	0.612000													15	97					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858983	105858983	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr2:105858983G>A	ENST00000258456.1	+	1	784	c.668G>A	c.(667-669)cGc>cAc	p.R223H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	223						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AACACGGTCCGCAAGAACGCC	0.677000													28	42					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	72					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360709	42360709	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:42360709C>T	ENST00000298119.4	+	4	2831	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	548						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CATCATTATTCTGATGATCCG	0.413000										HNSCC(30;0.082)			35	79					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411378	23411378	+	Silent	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chrX:23411378G>A	ENST00000379361.4	+	3	2603	c.1743G>A	c.(1741-1743)ggG>ggA	p.G581G		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	581					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACACCAAGGGGTTTGTGCGGA	0.393000													24	69					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803783	142803783	+	RNA	SNP	A	A	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:142803783A>T	ENST00000423385.1	-	0	1182																											atagttaacaaagtagctggc	0.403000													3	6					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928746	2928746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:2928746C>T	ENST00000397461.1	+	9	1162	c.778C>T	c.(778-780)Cga>Tga	p.R260*	CNTN4_ENST00000418658.1_Nonsense_Mutation_p.R260*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.R41*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.R260*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	260	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TATTATCTGGCGAAGAGCTGA	0.398000													3	9					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84534433	84534433	+	RNA	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:84534433C>T	ENST00000527857.1	+	0	4455					NR_026851.1																						CAGGGCTATCCCCGCAACTAC	0.502000													7	26					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287049	130287049	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:130287049G>A	ENST00000358511.6	+	5	2033	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D668N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	668	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.D668N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGTTCAGCGACATCAATAA	0.423000													16	133					0	0	1	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859278	149859278	+	Silent	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:149859278A>G	ENST00000331128.3	-	1	188	c.189T>C	c.(187-189)atT>atC	p.I63I		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	63					nucleosome assembly	nucleosome|nucleus	DNA binding	p.I63I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCAGCTCCAGAATTTCCGCGG	0.637000													7	103					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17603149	17603149	+	Silent	SNP	C	C	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:17603149C>G	ENST00000375460.3	+	12	1483	c.1443C>G	c.(1441-1443)ccC>ccG	p.P481P		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	481					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P481P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCCTGCCCCCGATGGGAAGG	0.597000													15	116					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538598	1538598	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:1538598C>T	ENST00000263071.4	-	11	1996	c.1947G>A	c.(1945-1947)gcG>gcA	p.A649A	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Silent_p.A563A	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	649	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACTGGCAGCCGCCGGAAAGG	0.701000													6	48					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84271067	84271067	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:84271067C>T	ENST00000568181.1	-	2	145	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	KCNG4_ENST00000308251.4_Missense_Mutation_p.G9S			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	9						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGATGCAGGCCCCCGTCTCTG	0.582000													34	60					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57114618	57114618	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:57114618A>G	ENST00000263314.2	+	3	318	c.284A>G	c.(283-285)aAg>aGg	p.K95R		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	95					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						ATCATCACCAAGATGATTGTT	0.483000													5	18					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43164073	43164073	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:43164073C>T	ENST00000352483.2	-	8	1372	c.1308G>A	c.(1306-1308)tcG>tcA	p.S436S	RIPK4_ENST00000332512.3_Silent_p.S388S|RIPK4_ENST00000542057.1_Silent_p.S325S|RIPK4_ENST00000544709.1_Silent_p.S325S			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	388						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAAGGACAGCGACAGTGATC	0.627000													21	56					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493433	20493433	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:20493433C>T	ENST00000504154.1	+	9	1077	c.825C>T	c.(823-825)gcC>gcT	p.A275A	SLIT2_ENST00000503837.1_Silent_p.A279A|SLIT2_ENST00000273739.5_Silent_p.A279A|SLIT2_ENST00000503823.1_Silent_p.A275A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	275	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTGCCCTGCCGCCTGTACCT	0.418000													21	55					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152694195	152694195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:152694195G>A	ENST00000367255.5	-	59	10085	c.9484C>T	c.(9484-9486)Cac>Tac	p.H3162Y	SYNE1_ENST00000341594.5_Missense_Mutation_p.H3201Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H3169Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3162Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.H3169Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3162					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)		TCTTTTTGGTGGAGATTTGAA	0.388000										HNSCC(10;0.0054)			41	118					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48523169	48523169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:48523169C>T	ENST00000537810.1	-	55	8189	c.7585G>A	c.(7585-7587)Gaa>Aaa	p.E2529K	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2529K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2529K|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2529					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTGGAATCTTCAGACTGGAGA	0.423000													8	60					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48888359	48888359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:48888359C>T	ENST00000262105.2	+	15	2659	c.2450C>T	c.(2449-2451)gCt>gTt	p.A817V	MCM4_ENST00000523944.1_Missense_Mutation_p.A817V	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	817					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AAAACACCAGCTCTAAAATAC	0.338000													12	26					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5417607	5417607	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr7:5417607C>T	ENST00000399537.4	-	6	2549	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	TNRC18_ENST00000430969.1_Missense_Mutation_p.R734Q			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	734							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCGTTCCTCCCGGTGTCTGGC	0.682000													21	50					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29398898	29398898	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr15:29398898C>A	ENST00000558402.1	+	13	2392	c.1793C>A	c.(1792-1794)gCc>gAc	p.A598D	APBA2_ENST00000558259.1_Missense_Mutation_p.A598D|APBA2_ENST00000558330.1_Missense_Mutation_p.A586D|APBA2_ENST00000411764.1_Missense_Mutation_p.A586D|APBA2_ENST00000561069.1_Missense_Mutation_p.A598D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	598	PDZ 1.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GTGATCCTGGCCAACATGATG	0.652000													16	77					6.31663e-08	6.59126e-08	1	1	0
LRRC49	54839	broad.mit.edu	37	15	71276586	71276586	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr15:71276586G>C	ENST00000260382.5	+	11	1419	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	LRRC49_ENST00000560158.2_Missense_Mutation_p.E75Q|LRRC49_ENST00000560691.1_Missense_Mutation_p.E93Q|LRRC49_ENST00000544974.2_Missense_Mutation_p.E377Q|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.E343Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.E392Q	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	387						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGCATTCCCAGAGGAAACAGG	0.368000													4	33					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728802	50728802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:50728802G>A	ENST00000449103.1	-	3	352	c.212C>T	c.(211-213)cCg>cTg	p.P71L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P71L			O15031	PLXB2_HUMAN	plexin B2	71	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCAGGGCCGGGCCCGTGGC	0.642000													10	48					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645912	19645912	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:19645912C>T	ENST00000457500.2	-	3	755	c.426G>A	c.(424-426)ctG>ctA	p.L142L	ALDH3A1_ENST00000225740.6_Silent_p.L142L|ALDH3A1_ENST00000395555.3_Silent_p.L142L|ALDH3A1_ENST00000444455.1_Silent_p.L142L|ALDH3A1_ENST00000494157.2_Silent_p.L69L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	142					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGTTCTCACTCAGCTCCGAGG	0.602000													14	71					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117061462	117061462	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr10:117061462C>T	ENST00000355044.3	+	17	2853	c.2727C>T	c.(2725-2727)tgC>tgT	p.C909C	ATRNL1_ENST00000423111.2_Silent_p.C6C	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	909	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTATGTGGTGCAGCAGTACGA	0.453000													14	53					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768620	57768620	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr20:57768620A>G	ENST00000371030.2	+	1	2546	c.2546A>G	c.(2545-2547)cAg>cGg	p.Q849R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	849						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCCCACGCAGCCTGCCTCT	0.637000													28	61					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4694749	4694749	+	Silent	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:4694749G>A	ENST00000262960.9	-	13	1717	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	DPP9_ENST00000594671.1_Silent_p.F451F|DPP9_ENST00000598800.1_Silent_p.F451F|DPP9_ENST00000597849.1_Silent_p.F480F	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	451					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ACAAATGGCAGAAGCCGGTCT	0.547000													6	21					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717547	13717547	+	Silent	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr5:13717547A>G	ENST00000265104.4	-	73	12686	c.12582T>C	c.(12580-12582)acT>acC	p.T4194T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4194	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTCCTGGACAGTGGAGTGCA	0.557000									Kartagener syndrome				6	42					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158066812	158066812	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:158066812G>A	ENST00000359775.5	+	6	1685	c.796G>A	c.(796-798)Gtt>Att	p.V266I	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.V266I|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	266						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CTGGTCCATCGTTGGCCTCTC	0.557000													5	35					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38822960	38822960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:38822960G>A	ENST00000303592.3	-	2	1436	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	393	Poly-Ala.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGCGGCCGCCGCAGCTGCCTC	0.697000													47	83					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73123401	73123401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr7:73123401G>A	ENST00000222812.3	-	2	108	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	STX1A_ENST00000395154.3_Missense_Mutation_p.R28C|STX1A_ENST00000395155.3_Missense_Mutation_p.R28C|STX1A_ENST00000395156.3_Missense_Mutation_p.R28C	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	28					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCCATGAAGCGGTCTCGGTCC	0.592000													51	100					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79328996	79328996	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:79328996G>C	ENST00000264895.6	+	31	4748		c.e31+1		FRAS1_ENST00000325942.6_Splice_Site	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCGCTTCGAGGTACCCTCTGC	0.483000													5	18					0	0	1	0	0
ZNF697	90874	broad.mit.edu	37	1	120168620	120168620	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:120168620T>G	ENST00000421812.2	-	2	223	c.104A>C	c.(103-105)gAa>gCa	p.E35A		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TTCTCTTTCTTCTGGGTCCCC	0.512000													39	84					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864427	6864427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:6864427C>G	ENST00000307659.5	+	7	2773	c.2318C>G	c.(2317-2319)aCt>aGt	p.T773S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T773S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	773							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AACAGTAGAACTTTAGGTGAG	0.308000													9	23					0	0	1	0	0
GBAS	2631	broad.mit.edu	37	7	56045863	56045863	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr7:56045863T>C	ENST00000322090.3	+	2	166	c.137T>C	c.(136-138)cTa>cCa	p.L46P	GBAS_ENST00000446778.1_Missense_Mutation_p.L46P|GBAS_ENST00000487370.1_3'UTR	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	46						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GACAGCTGGCTAAAATCCTTA	0.403000													18	70					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42720565	42720565	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:42720565G>T	ENST00000398652.3	+	8	715	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	FAM3B_ENST00000398647.3_Nonsense_Mutation_p.E130*|FAM3B_ENST00000357985.2_Nonsense_Mutation_p.E178*|FAM3B_ENST00000398646.3_Nonsense_Mutation_p.E201*|FAM3B_ENST00000479810.2_3'UTR			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	178					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				TGGAAGTAAAGAAATCAGGAA	0.438000													9	32					3.09899e-07	3.17845e-07	1	1	0
LDHAL6A	160287	broad.mit.edu	37	11	18497038	18497038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:18497038G>C	ENST00000280706.2	+	4	1241	c.444G>C	c.(442-444)tgG>tgC	p.W148C	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.W148C|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	148					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	ATGTAGCCTGGAAGTTGAGTG	0.363000													15	79					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247168	153247168	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:153247168T>C	ENST00000281708.4	-	10	2863	c.1634A>G	c.(1633-1635)tAt>tGt	p.Y545C	FBXW7_ENST00000263981.5_Missense_Mutation_p.Y465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.Y545C|FBXW7_ENST00000603841.1_Missense_Mutation_p.Y545C|FBXW7_ENST00000296555.5_Missense_Mutation_p.Y427C|FBXW7_ENST00000393956.3_Missense_Mutation_p.Y369C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	545					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.Y545C(3)|p.Y306C(1)|p.Y427C(1)|p.Y465C(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAATGAATAGACTCTATT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								39	53					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2648222	2648222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:2648222C>T	ENST00000382100.2	+	13	2193	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C	VLDLR_ENST00000382099.2_Missense_Mutation_p.R613C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	613			R -> H (in dbSNP:rs35948251).		cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TATAAAAAGTCGCCTCTATTG	0.378000													6	47					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725443	87725443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:87725443G>A	ENST00000305344.4	+	2	1094	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	HTR1E_ENST00000369584.1_Missense_Mutation_p.A131T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	131					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TATTGAATACGCCAGGAAGAG	0.572000													9	77					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71823313	71823313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:71823313G>A	ENST00000299980.4	-	2	511	c.70C>T	c.(70-72)Cga>Tga	p.R24*	AP1G1_ENST00000423132.2_Nonsense_Mutation_p.R24*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.R47*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.R24*|AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.R24*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	24					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATCATTTCTCGTTCTTCAGCT	0.463000													12	68					0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54428009	54428009	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:54428009G>A	ENST00000371370.3	+	7	1375	c.854G>A	c.(853-855)gGc>gAc	p.G285D	LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Missense_Mutation_p.G285D	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	285										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACCCACATAGGCCTTGTTCAC	0.443000													9	25					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69933970	69933970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:69933970C>T	ENST00000355303.5	+	2	526	c.221C>T	c.(220-222)tCg>tTg	p.S74L	ANO1_ENST00000538023.1_Missense_Mutation_p.S74L|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000316296.5_Missense_Mutation_p.S46L|ANO1_ENST00000398543.2_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	74					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGAGGCCCTCGGGCAACCGG	0.652000													4	27					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545808	81545808	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:81545808G>T	ENST00000548058.1	+	7	1941	c.1031G>T	c.(1030-1032)tGg>tTg	p.W344L	ACSS3_ENST00000548324.1_Missense_Mutation_p.W26L|ACSS3_ENST00000261206.3_Missense_Mutation_p.W343L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	344						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GACTTAGGCTGGGTTGTTGGA	0.323000													28	48					3.65163e-15	3.91246e-15	1	1	0
SLITRK1	114798	broad.mit.edu	37	13	84453963	84453963	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr13:84453963C>T	ENST00000377084.2	-	1	2565	c.1680G>A	c.(1678-1680)acG>acA	p.T560T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	560	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTTCACCGGCGTCTCACACT	0.532000													19	18					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102277	22102277	+	Missense_Mutation	SNP	C	C	T	rs143483449		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:22102277C>T	ENST00000542433.1	-	1	819	c.722G>A	c.(721-723)cGg>cAg	p.R241Q		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GGAGAAGGCCCGGCGCCTCCC	0.547000													20	34					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908787	123908787	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:123908787C>A	ENST00000330487.5	-	1	930	c.922G>T	c.(922-924)Gct>Tct	p.A308S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCACCCTGAGCAAATACTGAC	0.368000													10	17					2.17888e-05	2.21581e-05	1	1	0
RPL5	6125	broad.mit.edu	37	1	93306171	93306171	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:93306171C>A	ENST00000370321.3	+	7	859	c.769C>A	c.(769-771)Ccc>Acc	p.P257T		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	257					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGAAAAGAAGCCCAAGAAAGA	0.398000													4	115					0.184627	0.184627	1	1	0
PSMD1	5707	broad.mit.edu	37	2	231943412	231943412	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr2:231943412A>G	ENST00000308696.6	+	10	1273	c.1111A>G	c.(1111-1113)Ata>Gta	p.I371V	PSMD1_ENST00000373635.4_Missense_Mutation_p.I371V|PSMD1_ENST00000409643.1_Missense_Mutation_p.I371V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	371					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGCAACCGTTATAGCAAACTC	0.363000													15	17					0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33740486	33740486	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:33740486C>T	ENST00000293760.5	-	9	1450	c.1431G>A	c.(1429-1431)acG>acA	p.T477T	LEMD2_ENST00000508327.1_Silent_p.T175T	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	477						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GGTGGGACTCCGTCTGGATCC	0.622000													6	36					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248020626	248020626	+	Silent	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:248020626G>A	ENST00000366481.3	+	1	126	c.78G>A	c.(76-78)ccG>ccA	p.P26P		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	26						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCAGGAGCCGGTCAGCGTGG	0.721000													4	21					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385129	41385129	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:41385129C>T	ENST00000400454.1	-	33	6348	c.5871G>A	c.(5869-5871)acG>acA	p.T1957T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1957				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCCTTCTCTCGTGGAGGAGG	0.627000													14	34					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77755584	77755584	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:77755584G>A	ENST00000310942.4	+	4	376	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	CBX2_ENST00000269399.5_Missense_Mutation_p.R91Q	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	91	Ser-rich.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTGCAGCCGGCGCTCCAAG	0.657000													14	82					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89124669	89124669	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:89124669T>A	ENST00000554922.1	-	26	3987	c.3739A>T	c.(3739-3741)Act>Tct	p.T1247S	EML5_ENST00000380664.5_Missense_Mutation_p.T1247S|EML5_ENST00000352093.5_Missense_Mutation_p.T1209S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1247						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATCATAAGTCCAGCGAACA	0.403000													20	79					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134084326	134084326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:134084326C>T	ENST00000264360.4	+	4	3818	c.2992C>T	c.(2992-2994)Cgg>Tgg	p.R998W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	998					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R998W(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGGGCAGAGCGGTCCTTTTC	0.547000													9	174					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122968	41122968	+	Silent	SNP	G	G	A	rs145952780	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:41122968G>A	ENST00000220772.3	-	3	1000	c.663C>T	c.(661-663)ggC>ggT	p.G221G	SFRP1_ENST00000379845.3_Silent_p.G85G	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	221	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCTTCTTGTCGCCATTTTCTT	0.443000													16	56					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16356265	16356265	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:16356265G>T	ENST00000375692.1	+	14	1395	c.1267G>T	c.(1267-1269)Gcc>Tcc	p.A423S	CLCNKA_ENST00000439316.2_Missense_Mutation_p.A380S|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A423S|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A423S			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	423					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)	CCCCATGCCTGCCGGGTACTT	0.592000													22	229					3.28513e-13	3.48863e-13	1	1	0
ARHGEF18	23370	broad.mit.edu	37	19	7527146	7527146	+	Missense_Mutation	SNP	G	G	A	rs146371166		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:7527146G>A	ENST00000359920.6	+	11	2250	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	666					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCCAGCCCCGAGGCCTATTC	0.602000													19	78					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587393	42587393	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:42587393G>A	ENST00000289957.2	+	5	1071	c.943G>A	c.(943-945)Gtg>Atg	p.V315M		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	315					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATTGTTACCGTGTTTGTCAT	0.443000													25	217					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103500169	103500169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:103500169G>A	ENST00000226574.4	+	8	1170	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	NFKB1_ENST00000600343.1_Missense_Mutation_p.V54M|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000394820.4_Missense_Mutation_p.V234M|NFKB1_ENST00000505458.1_Missense_Mutation_p.V234M	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	234	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CCTGGAACCCGTGGTATCAGA	0.537000													18	64					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154271032	154271032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr5:154271032C>T	ENST00000285873.7	-	26	4106	c.4031G>A	c.(4030-4032)aGa>aAa	p.R1344K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1344					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTGTGAGTCTCAAGTCTAG	0.478000													38	85					0	0	1	0	0
DNAJC5	80331	broad.mit.edu	37	20	62562306	62562306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr20:62562306G>A	ENST00000360864.4	+	4	577	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	DNAJC5_ENST00000369911.2_Missense_Mutation_p.E142K	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	142					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAAGGCGCCTGAAGGCGAGGA	0.632000													7	66					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858608	149858608	+	Silent	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:149858608A>G	ENST00000331380.2	+	1	84	c.84A>G	c.(82-84)gtA>gtG	p.V28V		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	28					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGTTCCCGGTAGGGCGAGTGC	0.672000													5	183					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459480	148459480	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:148459480A>G	ENST00000542281.1	+	4	1104	c.658A>G	c.(658-660)Aag>Gag	p.K220E	AGTR1_ENST00000497524.1_Missense_Mutation_p.K220E|AGTR1_ENST00000474935.1_Missense_Mutation_p.K220E|AGTR1_ENST00000349243.3_Missense_Mutation_p.K220E|AGTR1_ENST00000461609.1_Missense_Mutation_p.K220E|AGTR1_ENST00000402260.1_Missense_Mutation_p.K220E|AGTR1_ENST00000404754.2_Missense_Mutation_p.K220E|AGTR1_ENST00000418473.2_Missense_Mutation_p.K220E|AGTR1_ENST00000475347.1_Missense_Mutation_p.K220E	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	220					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCTTATTTGGAAGGCCCTAAA	0.358000													4	33					0	0	1	0	0
METTL1	4234	broad.mit.edu	37	12	58162916	58162916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:58162916C>T	ENST00000324871.7	-	6	1403	c.694G>A	c.(694-696)Gga>Aga	p.G232R	METTL1_ENST00000257848.7_3'UTR	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	232						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			CCTAGATGTCCCACAACGGGG	0.532000													14	75					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	51					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119028234	119028234	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:119028234G>T	ENST00000328252.3	+	8	3200	c.2831G>T	c.(2830-2832)aGt>aTt	p.S944I	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	944			S -> R.		cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATCCATGGAAGTGGGTACTGT	0.433000													16	22					1.15088e-07	1.19056e-07	1	1	0
JUND	3727	broad.mit.edu	37	19	18391914	18391914	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:18391914C>T	ENST00000252818.3	-	1	518	c.381G>A	c.(379-381)aaG>aaA	p.K127K		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	127					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						TGGCCGCCACCTTGGGGTAGA	0.677000													5	15					0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50185257	50185257	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:50185257G>A	ENST00000532489.1	+	4	651	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	PRMT1_ENST00000454376.2_Missense_Mutation_p.V95I|PRMT1_ENST00000391851.4_Missense_Mutation_p.V77I			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	76						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GGTGCTGGACGTCGGCTCGGG	0.642000													7	59					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28145177	28145177	+	Silent	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:28145177G>A	ENST00000304658.5	-	11	2021	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	XPO6_ENST00000565698.1_Silent_p.H493H	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	507					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGGAGAAGGCGTGCGTGGGCA	0.577000													7	27					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69963428	69963428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:69963428C>T	ENST00000359154.2	+	12	1413	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	WWP2_ENST00000542271.1_Nonsense_Mutation_p.Q322*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.Q438*|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Nonsense_Mutation_p.Q438*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	438					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCCGGACCCAGGGGTAAGG	0.602000											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	52					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140785418	140785418	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:140785418G>A	ENST00000310546.2	+	2	1216	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	158	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GAACCAGCCCGGCGTGGCCTA	0.687000													4	18					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187517847	187517847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:187517847C>T	ENST00000441802.2	-	25	13056	c.12847G>A	c.(12847-12849)Gaa>Aaa	p.E4283K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4283					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCTGAATTCGGGATGCTCT	0.557000										HNSCC(5;0.00058)			16	27					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045896	76045896	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:76045896T>A	ENST00000238667.4	+	1	937	c.581T>A	c.(580-582)aTc>aAc	p.I194N	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	194					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGGTTTTCATCCTGGGCATG	0.602000													27	50					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													6	7	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971124	21971125	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:21971124_21971125delGA	ENST00000579755.1	-	2	568_569	c.276_277delTC	c.(274-279)tcacfs	p.SH92fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.SH133fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.SH92fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L27fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(11)|p.L65fs*38(1)|p.0(1)|p.L78fs*67(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.E61_L94del(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.H134fs*41(1)|p.L78H(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGTCGGGTGAGAGTGGCGGG	0.723		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			21	34	---	---	---	---					
ZKSCAN2	342357	broad.mit.edu	37	16	25258204	25258215	+	In_Frame_Del	DEL	GGTTTATCAGTG	GGTTTATCAGTG	-			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:25258204_25258215delGGTTTATCAGTG	ENST00000328086.7	-	5	2105_2116	c.1302_1313delCACTGATAAACC	c.(1300-1314)tca>tc	p.STDKP434del		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	434					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CATCTCCTTTGGTTTATCAGTGGACGGAGCAC	0.495													10	99	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32126964	32126964	+	RNA	DEL	T	T	-	rs77063499		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:32126964delT	ENST00000564145.1	-	0	456																											TTGCCCCCCCTGCCGCCGCGG	0.692													3	3	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													2	4	---	---	---	---					
