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
FLNC	2318	broad.mit.edu	37	7	128489488	128489488	+	Silent	SNP	G	G	A	rs57797061	by1000genomes	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:128489488G>A	ENST00000325888.8	+	30	5316	c.5055G>A	c.(5053-5055)ccG>ccA	p.P1685P	FLNC_ENST00000346177.6_Silent_p.P1685P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1685					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGTCCACGCCGGATGGGGCAG	0.607000													3	53					0	0	0.004672	0	0
CCDC170	80129	broad.mit.edu	37	6	151859254	151859254	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:151859254C>G	ENST00000367290.5	+	3	350	c.261C>G	c.(259-261)taC>taG	p.Y87*	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Nonsense_Mutation_p.Y87*			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	87																	TGGAGAGCTACAAGGAAAACA	0.388000													7	46					0	0	0.001984	0	0
GPR101	83550	broad.mit.edu	37	X	136113430	136113430	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:136113430T>C	ENST00000298110.1	-	1	403	c.404A>G	c.(403-405)cAc>cGc	p.H135R		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	135						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGAGAGAGGGTGGATGATGGA	0.592000													7	12					0	0	0.003080	0	0
CNGB1	1258	broad.mit.edu	37	16	57954416	57954416	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:57954416G>T	ENST00000564448.1	-	19	1718	c.1658C>A	c.(1657-1659)aCa>aAa	p.T553K	CNGB1_ENST00000251102.8_Missense_Mutation_p.T559K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	559					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGCGCTATTTGTGCTGGCCGT	0.612000													5	67					2.7689e-08	3.21489e-08	0.001984	1	0
SLC6A13	6540	broad.mit.edu	37	12	333173	333173	+	Silent	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:333173C>G	ENST00000343164.4	-	11	1348	c.1296G>C	c.(1294-1296)ctG>ctC	p.L432L	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.L340L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	432					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGAGCATGATCAGCCCCACAA	0.592000													4	60					0	0	0.009096	0	0
NXPH3	11248	broad.mit.edu	37	17	47656507	47656507	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:47656507G>T	ENST00000328741.5	+	2	966	c.604G>T	c.(604-606)Gac>Tac	p.D202Y	NXPH3_ENST00000513748.1_Missense_Mutation_p.D202Y	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	202	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CTGCTCCCGAGACCACGCTCA	0.602000													20	73					8.28177e-16	1.00898e-15	0.007413	1	0
COPS5	10987	broad.mit.edu	37	8	67958147	67958147	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:67958147C>G	ENST00000357849.4	-	7	1140	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	PPP1R42_ENST00000517834.1_Intron|COPS5_ENST00000517736.1_3'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	274					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCTGACTGCTCTAACTTTTCA	0.438000													6	89					0	0	0.001984	0	0
NCF4	4689	broad.mit.edu	37	22	37271924	37271924	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:37271924A>C	ENST00000397147.4	+	8	1041	c.857A>C	c.(856-858)aAa>aCa	p.K286T	NCF4_ENST00000248899.6_Intron	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	0					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCCCACTCCAAAGCCCCCAGT	0.627000													4	73					0	0	0.009096	0	0
CTHRC1	115908	broad.mit.edu	37	8	104394752	104394752	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:104394752C>G	ENST00000330295.5	+	4	798	c.656C>G	c.(655-657)tCa>tGa	p.S219*	CTHRC1_ENST00000520337.1_Nonsense_Mutation_p.S205*|CTHRC1_ENST00000520880.1_Nonsense_Mutation_p.S89*	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	219						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGTACTTGTTCAGATTACCCA	0.373000													13	158					0	0	0.013537	0	0
EXO1	9156	broad.mit.edu	37	1	242016725	242016725	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:242016725G>C	ENST00000366548.3	+	6	940	c.347G>C	c.(346-348)cGa>cCa	p.R116P	EXO1_ENST00000518483.1_Missense_Mutation_p.R116P|EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.R116P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	116					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCGGAAGCTCGAGAGTGTTTC	0.423000								Editing and processing nucleases					12	85					0	0	0.001855	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324742	79324742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:79324742C>T	ENST00000428286.1	-	8	2571	c.1371G>A	c.(1369-1371)tgG>tgA	p.W457*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.W816*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	816					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTGCAAATTCCAGGTATTTT	0.468000													8	29					0	0	0.004482	0	0
ALPPL2	251	broad.mit.edu	37	2	233274348	233274348	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:233274348C>T	ENST00000295453.3	+	11	1417	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	455					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CAGGCGAGGACGTGGCGGTGT	0.662000													5	18					0	0	0.003080	0	0
ATXN10	25814	broad.mit.edu	37	22	46088932	46088932	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:46088932G>A	ENST00000252934.5	+	3	630	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.R58Q	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	122					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CGTGAACTGCGAGTGGAACAG	0.338000													9	61					0	0	0.008291	0	0
ITGA8	8516	broad.mit.edu	37	10	15649678	15649678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:15649678G>A	ENST00000378076.3	-	17	2115	c.1762C>T	c.(1762-1764)Cga>Tga	p.R588*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	588					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R588*(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATACTTACTCGAAGGTAAACG	0.448000													24	222					0	0	0.002780	0	0
UBXN7	26043	broad.mit.edu	37	3	196089387	196089387	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:196089387C>T	ENST00000296328.4	-	9	1080	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	UBXN7_ENST00000535858.1_Missense_Mutation_p.D188N|UBXN7_ENST00000428095.1_Missense_Mutation_p.D174N	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	336							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCTTCTTCATCAGAGCCACAA	0.443000													19	148					0	0	0.010504	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169150	60169150	+	Silent	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:60169150C>G	ENST00000261187.4	+	4	1238	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	SLC16A7_ENST00000543448.1_Silent_p.L259L|SLC16A7_ENST00000547379.1_Silent_p.L358L|SLC16A7_ENST00000552024.1_Silent_p.L358L|SLC16A7_ENST00000552432.1_Silent_p.L358L	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	358						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCAGTGTTCTCTTTGAAACTC	0.502000													18	123					0	0	0.006122	0	0
ZNF208	7757	broad.mit.edu	37	19	22156075	22156075	+	Silent	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:22156075G>T	ENST00000397126.4	-	4	1909	c.1761C>A	c.(1759-1761)ggC>ggA	p.G587G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAAAGCTTTGCCACATTCTT	0.353000													3	42					0.004672	0.00492839	0.004672	1	0
ADCY5	111	broad.mit.edu	37	3	123003507	123003507	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:123003507C>T	ENST00000462833.1	-	21	4946	c.3734G>A	c.(3733-3735)gGc>gAc	p.G1245D	ADCY5_ENST00000491190.1_Missense_Mutation_p.G903D|ADCY5_ENST00000309879.5_Missense_Mutation_p.G895D	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1245					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCGCCTTTGCCCTTGACCTT	0.612000													5	288					0	0	0.000602	0	0
OR5T2	219464	broad.mit.edu	37	11	56000661	56000661	+	Translation_Start_Site	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:56000661T>C	ENST00000313264.4	-	1	76	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CTGTACGACATATATTCAGCA	0.373000													42	52					0	0	0.011902	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502130	90502130	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:90502130A>G	ENST00000325643.5	+	4	2794	c.2728A>G	c.(2728-2730)Agc>Ggc	p.S910G		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CAGAACAACAAGCAAGTCAGT	0.602000													4	49					0	0	0.009096	0	0
OR5J2	282775	broad.mit.edu	37	11	55944828	55944828	+	Silent	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:55944828G>T	ENST00000312298.1	+	1	735	c.735G>T	c.(733-735)ctG>ctT	p.L245L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CCTCTCACCTGACTGCTGTGA	0.438000													10	77					3.86212e-05	4.28299e-05	0.008291	1	0
CAPNS2	84290	broad.mit.edu	37	16	55601269	55601269	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:55601269G>C	ENST00000457326.2	+	1	686	c.601G>C	c.(601-603)Gat>Cat	p.D201H	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	201	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TGCTAATGAAGATGGAGATAT	0.488000													12	171					0	0	0.010729	0	0
MRC1	4360	broad.mit.edu	37	10	17905662	17905662	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:17905662C>T	ENST00000331429.2	+	11	1856	c.1753C>T	c.(1753-1755)Cgg>Tgg	p.R585W																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAAGAGGTTCGGTTCACCCA	0.448000													34	59					0	0	0.006999	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423337	47423337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:47423337G>T	ENST00000404338.3	+	1	1405	c.1405G>T	c.(1405-1407)Gag>Tag	p.E469*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	469	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCAGTGGCTGGAGGAATCTGT	0.378000													13	5					0.00010058	0.000110129	0.013537	1	0
ATP11A	23250	broad.mit.edu	37	13	113481200	113481200	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr13:113481200G>A	ENST00000487903.1	+	12	1304	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	ATP11A_ENST00000375645.3_Missense_Mutation_p.G406R|ATP11A_ENST00000283558.8_Missense_Mutation_p.G406R|ATP11A_ENST00000375630.2_Missense_Mutation_p.G406R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	406					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G406>?(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGAAGAGCTGGGACAGGTTGG	0.547000													5	13					0	0	0.000602	0	0
GPNMB	10457	broad.mit.edu	37	7	23286502	23286502	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:23286502G>A	ENST00000258733.4	+	1	321	c.26G>A	c.(25-27)gGa>gAa	p.G9E	GPNMB_ENST00000381990.2_Missense_Mutation_p.G9E|GPNMB_ENST00000409458.3_Missense_Mutation_p.G9E|GPNMB_ENST00000453162.2_Missense_Mutation_p.G9E|GPNMB_ENST00000539136.1_Missense_Mutation_p.G9E			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	9					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TATTTCCTGGGATTTCTGCTC	0.478000													28	51					0	0	0.010818	0	0
SORCS1	114815	broad.mit.edu	37	10	108923927	108923927	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:108923927G>A	ENST00000263054.6	-	1	365	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	SORCS1_ENST00000344440.6_Missense_Mutation_p.R120W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	120						integral to membrane	neuropeptide receptor activity|protein binding	p.R120W(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCTCTCCCCGTTCTGCCTTC	0.701000													5	28					0	0	0.001984	0	0
PIK3CD	5293	broad.mit.edu	37	1	9784117	9784117	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:9784117C>T	ENST00000536656.1	+	21	2965	c.2757C>T	c.(2755-2757)caC>caT	p.H919H	PIK3CD_ENST00000361110.2_Silent_p.H919H|PIK3CD_ENST00000377346.4_Silent_p.H895H			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	895	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GCGATCGGCACAGCGACAACA	0.632000													57	54					0	0	0.014410	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28302210	28302210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr21:28302210C>G	ENST00000284987.5	-	7	2341	c.2220G>C	c.(2218-2220)aaG>aaC	p.K740N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	740	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATTACCTTTTCTTATTAAAGG	0.383000													5	69					0	0	0.000602	0	0
CAPN3	825	broad.mit.edu	37	15	42703502	42703502	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:42703502G>C	ENST00000397163.3	+	23	2617	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H	CAPN3_ENST00000569136.1_Missense_Mutation_p.D135H|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000561817.1_Missense_Mutation_p.D135H|CAPN3_ENST00000397200.4_Missense_Mutation_p.D288H|CAPN3_ENST00000397204.4_Missense_Mutation_p.D135H|CAPN3_ENST00000357568.3_Missense_Mutation_p.D794H|CAPN3_ENST00000356316.3_Missense_Mutation_p.D707H|CAPN3_ENST00000349748.3_Missense_Mutation_p.D708H|CAPN3_ENST00000337571.4_Missense_Mutation_p.D135H|CAPN3_ENST00000318023.7_Missense_Mutation_p.D794H	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	800	Domain IV.|EF-hand 4.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCATGCATTTGACAAGGATGG	0.498000													16	61					0	0	0.007413	0	0
C12orf60	144608	broad.mit.edu	37	12	14976222	14976222	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:14976222C>T	ENST00000330828.2	+	2	557	c.353C>T	c.(352-354)gCc>gTc	p.A118V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	118										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						TTCAAAAGTGCCCATACGCCA	0.428000													5	103					0	0	0.001168	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510904	119510904	+	Missense_Mutation	SNP	C	C	T	rs117089274	byFrequency	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:119510904C>T	ENST00000368468.3	-	10	1912	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	491					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.E491K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCCATGCCTTCGGGAGCTGCA	0.522000													11	85					0	0	0.010729	0	0
GRPR	2925	broad.mit.edu	37	X	16142365	16142365	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:16142365G>A	ENST00000380289.2	+	1	687	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	97					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGCTCCAGTGGATGCCAGCAG	0.502000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	27					0	0	0.005524	0	0
OR4C3	256144	broad.mit.edu	37	11	48346829	48346829	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:48346829G>A	ENST00000319856.4	+	1	358	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCATTGTATGAGGGGAGAAC	0.443000													10	204					0	0	0.012213	0	0
POLQ	10721	broad.mit.edu	37	3	121186390	121186390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:121186390G>A	ENST00000264233.5	-	24	7071	c.6943C>T	c.(6943-6945)Cga>Tga	p.R2315*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2315					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGCATGTCGCATGCTAATT	0.443000								DNA polymerases (catalytic subunits)					20	48					0	0	0.008871	0	0
ANO3	63982	broad.mit.edu	37	11	26529794	26529794	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:26529794G>C	ENST00000256737.3	+	5	1428	c.576G>C	c.(574-576)ttG>ttC	p.L192F	ANO3_ENST00000525139.1_Missense_Mutation_p.L176F|ANO3_ENST00000537978.1_Missense_Mutation_p.L176F|ANO3_ENST00000531646.1_Missense_Mutation_p.L192F|ANO3_ENST00000531568.1_Missense_Mutation_p.L46F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	192						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGAAGGCTTGATGTTGGAGA	0.299000													19	20					0	0	0.010504	0	0
OR5V1	81696	broad.mit.edu	37	6	29323824	29323824	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:29323824A>G	ENST00000377154.1	-	4	448	c.149T>C	c.(148-150)gTg>gCg	p.V50A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V50A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGATCAGTCACAGTCGTCAA	0.388000													20	125					0	0	0.014323	0	0
RNF148	378925	broad.mit.edu	37	7	122341901	122341901	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:122341901T>C	ENST00000434824.1	-	1	1120	c.904A>G	c.(904-906)Atc>Gtc	p.I302V	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_3'UTR	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	302						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GTTTTCAGGATGTCACACTTG	0.358000													7	106					0	0	0.001984	0	0
CELF4	56853	broad.mit.edu	37	18	34853090	34853090	+	Missense_Mutation	SNP	C	C	A	rs150441111	by1000genomes	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr18:34853090C>A	ENST00000420428.2	-	7	1233	c.838G>T	c.(838-840)Gcg>Tcg	p.A280S	CELF4_ENST00000591287.1_Missense_Mutation_p.A279S|CELF4_ENST00000591282.1_Missense_Mutation_p.A280S|CELF4_ENST00000361795.5_Missense_Mutation_p.A278S|CELF4_ENST00000412753.1_Missense_Mutation_p.A279S|CELF4_ENST00000601019.1_Missense_Mutation_p.A278S|CELF4_ENST00000588597.1_Missense_Mutation_p.A269S|CELF4_ENST00000334919.5_Missense_Mutation_p.A270S|CELF4_ENST00000603232.1_Missense_Mutation_p.A279S	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	280	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCGCCCTGCGCGACTGATGCC	0.647000													42	29					2.40228e-13	2.84653e-13	0.013114	1	0
HSP90B1	7184	broad.mit.edu	37	12	104337038	104337038	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:104337038G>T	ENST00000299767.5	+	13	2013	c.1831G>T	c.(1831-1833)Gtt>Ttt	p.V611F		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	611					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TCGTGAAGCAGTTGAGAAAGA	0.418000													15	33					8.60227e-14	1.02634e-13	0.004007	1	0
ZFP14	57677	broad.mit.edu	37	19	36831737	36831737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:36831737G>A	ENST00000270001.7	-	5	1106	c.991C>T	c.(991-993)Cag>Tag	p.Q331*		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TGAATTTTCTGATGTACTCTA	0.403000													31	177					0	0	0.010818	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													4	6					0	0	0.001984	0	0
SLC9A3	6550	broad.mit.edu	37	5	484690	484690	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:484690T>C	ENST00000264938.3	-	5	886	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	SLC9A3_ENST00000514375.1_Missense_Mutation_p.I293V	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	293						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGTAGGAGATGATGAACACG	0.642000													7	45					0	0	0.001984	0	0
CNR1	1268	broad.mit.edu	37	6	88854382	88854382	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:88854382C>T	ENST00000537554.1	-	2	4174	c.612G>A	c.(610-612)gtG>gtA	p.V204V	CNR1_ENST00000369499.2_Silent_p.V204V|CNR1_ENST00000428600.2_Silent_p.V204V|CNR1_ENST00000549716.1_Silent_p.V143V|CNR1_ENST00000535130.1_Silent_p.V204V|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Silent_p.V171V|CNR1_ENST00000369501.2_Silent_p.V204V|CNR1_ENST00000549890.1_Silent_p.V204V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	204					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACAGGCTGCCCACGGAGGCAG	0.557000													3	30					0	0	0.009096	0	0
ZNF790	388536	broad.mit.edu	37	19	37311007	37311007	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:37311007G>A	ENST00000356725.4	-	5	359	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGACACCTCGACTGCATGTC	0.323000													22	125					0	0	0.014323	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839831	40839831	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:40839831C>T	ENST00000264638.4	+	8	1355	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	380					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTTCCCACGCCGTGGCCGCCT	0.637000													4	65					0	0	0.000602	0	0
PPFIA1	8500	broad.mit.edu	37	11	70172809	70172809	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:70172809G>C	ENST00000253925.7	+	7	1030	c.815G>C	c.(814-816)cGc>cCc	p.R272P	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R272P|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	272					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ATGAAAGAACGCCTGGCTTCC	0.423000													82	1180					0	0	0.014410	0	0
SH3GL1	6455	broad.mit.edu	37	19	4366921	4366921	+	Splice_Site	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:4366921A>G	ENST00000269886.3	-	2	293		c.e2+1		SH3GL1_ENST00000417295.2_Splice_Site|SH3GL1_ENST00000598564.1_Splice_Site	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTTCTTCCTCACCTTCTCCAT	0.597000			T	MLL	AL								32	229					0	0	0.003755	0	0
CXCL12	6387	broad.mit.edu	37	10	44876302	44876302	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:44876302A>G	ENST00000374429.2	-	2	174	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395795.4_Missense_Mutation_p.C30R|CXCL12_ENST00000395793.3_Missense_Mutation_p.C30R|CXCL12_ENST00000395794.2_Missense_Mutation_p.C30R|CXCL12_ENST00000343575.6_Missense_Mutation_p.C30R|CXCL12_ENST00000374426.2_Missense_Mutation_p.C30R|AL137026.1_ENST00000593376.1_Intron	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	30					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CGGCATGGGCATCTGTAGCTC	0.493000													18	136					0	0	0.006122	0	0
IL27RA	9466	broad.mit.edu	37	19	14153306	14153306	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:14153306G>C	ENST00000263379.2	+	5	701	c.576G>C	c.(574-576)gaG>gaC	p.E192D		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	192	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCCTGTTGAGATCCAAGATT	0.567000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	130					0	0	0.008740	0	0
TUSC5	286753	broad.mit.edu	37	17	1183425	1183425	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:1183425T>C	ENST00000333813.3	+	1	469	c.130T>C	c.(130-132)Tcc>Ccc	p.S44P		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	44					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGAATCTGTCCAAGACCCT	0.617000													27	65					0	0	0.007291	0	0
MAGEF1	64110	broad.mit.edu	37	3	184429482	184429482	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:184429482G>A	ENST00000317897.3	-	1	354	c.128C>T	c.(127-129)gCc>gTc	p.A43V		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	43										breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CTCCCTCCCGGCGCCAAGCTC	0.751000													7	49					0	0	0.001984	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206629	70206629	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:70206629A>C	ENST00000550536.1	+	9	1707	c.1250A>C	c.(1249-1251)tAt>tCt	p.Y417S	RAB3IP_ENST00000551641.1_Missense_Mutation_p.Y195S|RAB3IP_ENST00000550847.1_Missense_Mutation_p.Y108S|RAB3IP_ENST00000247833.7_Missense_Mutation_p.Y401S|AC025263.3_ENST00000550437.1_Missense_Mutation_p.Y42S|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000553099.1_Missense_Mutation_p.Y195S|RAB3IP_ENST00000325555.9_Missense_Mutation_p.Y195S|RAB3IP_ENST00000483530.2_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	417					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCAACTATTATTATATTTCT	0.328000													23	59					0	0	0.002780	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794599	18794599	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr20:18794599T>A	ENST00000377428.2	+	1	230	c.140T>A	c.(139-141)gTg>gAg	p.V47E	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		AGCTTCCCAGTGTTTCAGGAC	0.507000													22	40					0	0	0.012319	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104993010	104993010	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:104993010T>C	ENST00000372582.1	+	9	1862	c.1106T>C	c.(1105-1107)gTa>gCa	p.V369A	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V369A|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	369					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCTCCTTGTACTGCTGGTG	0.413000													6	44					0	0	0.001168	0	0
NEB	4703	broad.mit.edu	37	2	152363454	152363454	+	Translation_Start_Site	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:152363454C>T	ENST00000509223.2	-	0	21				NEB_ENST00000603639.1_Missense_Mutation_p.R7842H|NEB_ENST00000172853.10_Missense_Mutation_p.R6141H|NEB_ENST00000397345.3_Missense_Mutation_p.R7842H|NEB_ENST00000604864.1_Missense_Mutation_p.R7842H|NEB_ENST00000409198.1_Missense_Mutation_p.R6141H|NEB_ENST00000427231.2_Missense_Mutation_p.R7842H|NEB_ENST00000498015.2_5'UTR			P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTTTACACGCAGTATTTC	0.318000													24	54					0	0	0.003330	0	0
SELK	58515	broad.mit.edu	37	3	53919910	53919910	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:53919910C>T	ENST00000495461.1	-	4	423	c.224G>A	c.(223-225)gGt>gAt	p.G75D	SELK_ENST00000541726.1_Missense_Mutation_p.G75D			Q9Y6D0	SELK_HUMAN		75					response to oxidative stress	endoplasmic reticulum									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATTGATTCTACCCATTCTTCG	0.408000													4	3					0	0	0.009096	0	0
DDX10	1662	broad.mit.edu	37	11	108788633	108788633	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:108788633A>G	ENST00000526794.1	+	17	2370	c.2338A>G	c.(2338-2340)Agt>Ggt	p.S780G	DDX10_ENST00000322536.3_Missense_Mutation_p.S780G			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCTGGATTGGAGtgatgatga	0.363000			T	NUP98	AML*								3	65					0	0	0.004672	0	0
TRERF1	55809	broad.mit.edu	37	6	42231078	42231078	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:42231078C>A	ENST00000541110.1	-	8	2432	c.1864G>T	c.(1864-1866)Gac>Tac	p.D622Y	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000372922.4_Missense_Mutation_p.D622Y|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	622	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATCTCGTCGTCCGACATCGAG	0.667000													8	79					0.000274275	0.000294718	0.004482	1	0
NLGN4X	57502	broad.mit.edu	37	X	6069195	6069195	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:6069195G>T	ENST00000381095.3	-	2	940	c.313C>A	c.(313-315)Cag>Aag	p.Q105K	NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q105K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q105K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q105K|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q105K	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	105					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCAGCAAACTGAGTAGTATTT	0.557000													11	31					2.80697e-09	3.30345e-09	0.010729	1	0
PCNX	22990	broad.mit.edu	37	14	71543136	71543136	+	Splice_Site	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:71543136G>T	ENST00000304743.2	+	28	5783	c.5337_splice	c.e28+1	p.K1779_splice	PCNX_ENST00000439984.3_Splice_Site_p.K1668_splice|PCNX_ENST00000238570.5_Splice_Site_p.K1707_splice	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1779						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GAAGAGCAAAGGTAGAGTTTA	0.403000													8	23					0.000157383	0.000171241	0.003080	1	0
CCDC170	80129	broad.mit.edu	37	6	151936746	151936746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:151936746G>T	ENST00000367290.5	+	10	1989	c.1900G>T	c.(1900-1902)Gaa>Taa	p.E634*	CCDC170_ENST00000239374.7_Nonsense_Mutation_p.E627*			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	627																	AAACATGATAGAAGTGGTAAC	0.403000													37	82					2.87052e-16	3.52199e-16	0.005524	1	0
FMN2	56776	broad.mit.edu	37	1	240256692	240256692	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:240256692C>T	ENST00000319653.9	+	1	1513	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	428					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCTCAGCTCGCCCAATCAC	0.667000													6	64					0	0	0.001168	0	0
PSG7	5676	broad.mit.edu	37	19	43430101	43430101	+	RNA	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:43430101G>A	ENST00000406070.2	-	0	1163				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448000													4	134					0	0	0.009096	0	0
SHOX2	6474	broad.mit.edu	37	3	157820503	157820503	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:157820503C>T	ENST00000490689.2	-	2	1665	c.132G>A	c.(130-132)ctG>ctA	p.L44L	SHOX2_ENST00000389589.4_Silent_p.L197L|SHOX2_ENST00000483851.2_Silent_p.L173L|SHOX2_ENST00000441443.2_Silent_p.L44L|SHOX2_ENST00000425436.3_Silent_p.L173L|SHOX2_ENST00000554685.1_5'UTR			O60902	SHOX2_HUMAN	short stature homeobox 2	173					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTCGCTGGCTCAGTTCCTCTC	0.607000													6	94					0	0	0.001168	0	0
NFS1	9054	broad.mit.edu	37	20	34285652	34285652	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr20:34285652T>C	ENST00000374092.4	-	3	348	c.278A>G	c.(277-279)cAt>cGt	p.H93R	NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000306750.3_Missense_Mutation_p.H93R|NFS1_ENST00000541387.1_Missense_Mutation_p.H93R|NFS1_ENST00000374085.1_Missense_Mutation_p.H33R|NFS1_ENST00000397425.1_Missense_Mutation_p.H33R	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	93					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GCCATAAGCATGTGTCCGGGA	0.527000													8	43					0	0	0.013537	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307589	140307589	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:140307589C>G	ENST00000253807.2	+	1	1112	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S371C|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCGATTCTAATGGTAGG	0.522000													15	22					0	0	0.003163	0	0
IGHG4	3503	broad.mit.edu	37	14	106091091	106091091	+	RNA	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:106091091C>T	ENST00000390543.2	-	0	705																											GTCATCTCCTCCTGGGATGGG	0.647000													46	471					0	0	0.014410	0	0
PRDM9	56979	broad.mit.edu	37	5	23510095	23510095	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:23510095A>G	ENST00000296682.3	+	4	442	c.260A>G	c.(259-261)gAc>gGc	p.D87G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	87					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGGTGGATGACACAGAAGAT	0.418000										HNSCC(3;0.000094)			7	37					0	0	0.008291	0	0
DZIP3	9666	broad.mit.edu	37	3	108344785	108344785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:108344785G>T	ENST00000361582.3	+	7	780	c.550G>T	c.(550-552)Gga>Tga	p.G184*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.G184*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	184					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGTTTATTTTGGACGTGGTTT	0.353000													21	125					8.10497e-08	9.22474e-08	0.010504	1	0
COL6A6	131873	broad.mit.edu	37	3	130380658	130380658	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:130380658C>T	ENST00000358511.6	+	34	6039	c.6008C>T	c.(6007-6009)aCt>aTt	p.T2003I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T2003I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2003	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGCCGGAGACTTCTGTCACT	0.517000													10	38					0	0	0.006214	0	0
FCGR2B	2213	broad.mit.edu	37	1	161642856	161642856	+	Silent	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:161642856C>G	ENST00000367962.4	+	4	610	c.483C>G	c.(481-483)gtC>gtG	p.V161V	FCGR2B_ENST00000367961.4_Silent_p.V154V|FCGR2B_ENST00000367960.5_Silent_p.V154V|FCGR2B_ENST00000236937.9_Silent_p.V161V|FCGR2B_ENST00000358671.5_Silent_p.V161V|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000428605.2_Silent_p.V161V|FCGR2B_ENST00000403078.3_Silent_p.V161V			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	161	Ig-like C2-type 2.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTCTGGTCAAGGTCACAT	0.522000			T	?	ALL								7	22					0	0	0.008291	0	0
CAGE1	285782	broad.mit.edu	37	6	7370283	7370283	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:7370283G>A	ENST00000502583.1	-	6	2326	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	CAGE1_ENST00000338150.4_Missense_Mutation_p.H588Y|CAGE1_ENST00000512086.1_Missense_Mutation_p.H588Y|CAGE1_ENST00000296742.7_Missense_Mutation_p.H452Y|CAGE1_ENST00000379918.4_Missense_Mutation_p.H588Y	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	588										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGATTAGAATGTGTCGTTTTT	0.383000													5	25					0	0	0.001168	0	0
FCGBP	8857	broad.mit.edu	37	19	40364231	40364231	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:40364231C>A	ENST00000221347.6	-	31	14418	c.14411G>T	c.(14410-14412)gGc>gTc	p.G4804V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4804						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAGACCTCGCCCAGTGGGTA	0.657000													31	118					2.47511e-08	2.8932e-08	0.008361	1	0
EIF2AK4	440275	broad.mit.edu	37	15	40313219	40313219	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:40313219C>T	ENST00000263791.5	+	31	4336	c.4293C>T	c.(4291-4293)gaC>gaT	p.D1431D	EIF2AK4_ENST00000382727.2_Silent_p.D1403D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1431	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCATGTACGACTGGTCACAGG	0.473000													5	36					0	0	0.001168	0	0
BRD1	23774	broad.mit.edu	37	22	50216800	50216800	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:50216800G>A	ENST00000216267.8	-	1	1652	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	BRD1_ENST00000542442.1_Missense_Mutation_p.T28M|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000342989.5_De_novo_Start_InFrame|BRD1_ENST00000404034.1_Missense_Mutation_p.T389M|BRD1_ENST00000457780.2_Missense_Mutation_p.T389M|BRD1_ENST00000404760.1_Missense_Mutation_p.T389M	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	389					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCTGGAGGCGTGTGGACATC	0.542000													19	180					0	0	0.008871	0	0
FARP1	10160	broad.mit.edu	37	13	99047720	99047720	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr13:99047720G>A	ENST00000376586.2	+	13	1740	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	FARP1_ENST00000595437.1_Silent_p.Q468Q|FARP1_ENST00000319562.6_Silent_p.Q468Q			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	468					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGCCCCCGCAGCCAAGCACAG	0.592000													31	41					0	0	0.005524	0	0
NOTCH4	4855	broad.mit.edu	37	6	32171962	32171962	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:32171962G>T	ENST00000375023.3	-	19	3208	c.3070C>A	c.(3070-3072)Cac>Aac	p.H1024N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1024	EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCAGAGAGTGGCAGGCTGCA	0.627000													4	25					0.00024832	0.000268496	0.009096	1	0
AP1G1	164	broad.mit.edu	37	16	71779057	71779057	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:71779057G>A	ENST00000299980.4	-	19	2430	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	AP1G1_ENST00000564155.1_Silent_p.I88I|AP1G1_ENST00000423132.2_Silent_p.I666I|AP1G1_ENST00000433195.2_Silent_p.I686I|AP1G1_ENST00000393512.3_Silent_p.I666I|AP1G1_ENST00000569748.1_Silent_p.I663I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	663					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)				CTGTAAGGTTGATGTCTCCCA	0.448000													4	58					0	0	0.009096	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744677	70744677	+	Missense_Mutation	SNP	G	G	C	rs146746403		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:70744677G>C	ENST00000260126.3	-	2	938	c.232C>G	c.(232-234)Ccg>Gcg	p.P78A	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P78A|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P78A|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	78						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGGCCAACGGGTTCGGGCCT	0.647000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	43					0	0	0.007835	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886290	24886290	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:24886290G>A	ENST00000382554.3	+	9	5653	c.5335G>A	c.(5335-5337)Gca>Aca	p.A1779T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1779					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GATGAGCAGCGCAAACATTGA	0.617000													4	137					0	0	0.009096	0	0
ABTB1	80325	broad.mit.edu	37	3	127395182	127395182	+	Missense_Mutation	SNP	C	C	T	rs149260862		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:127395182C>T	ENST00000232744.8	+	5	474	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000453791.2_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	130	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCGGGTGCATCGCTGCGTCCT	0.572000													22	138					0	0	0.003330	0	0
ZNF485	220992	broad.mit.edu	37	10	44112550	44112550	+	Silent	SNP	G	G	A	rs141606024	byFrequency	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:44112550G>A	ENST00000361807.3	+	5	1253	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	ZNF485_ENST00000374435.3_Silent_p.P353P|ZNF485_ENST00000374437.2_Silent_p.P262P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAATAAACCGTATCAGTGTC	0.418000													4	80					0	0	0.000602	0	0
PTCH1	5727	broad.mit.edu	37	9	98239831	98239831	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:98239831G>C	ENST00000430669.2	-	10	1888	c.1303C>G	c.(1303-1305)Cag>Gag	p.Q435E	PTCH1_ENST00000429896.2_Missense_Mutation_p.Q350E|PTCH1_ENST00000375274.2_Missense_Mutation_p.Q500E|PTCH1_ENST00000437951.1_Missense_Mutation_p.Q435E|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q350E|PTCH1_ENST00000331920.6_Missense_Mutation_p.Q501E|PTCH1_ENST00000421141.1_Missense_Mutation_p.Q350E			Q13635	PTC1_HUMAN	patched 1	501					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TTTAGTACCTGAGTTGTTGCA	0.582000													6	35					0	0	0.001168	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73156643	73156643	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr4:73156643G>T	ENST00000286657.4	-	20	2896	c.2860C>A	c.(2860-2862)Cgt>Agt	p.R954S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	954	TSP type-1 3.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTCTCGGGACGGTCACCCATG	0.572000													23	24					1.55795e-14	1.8717e-14	0.012319	1	0
OR11G2	390439	broad.mit.edu	37	14	20665703	20665703	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:20665703C>A	ENST00000357366.3	+	1	209	c.209C>A	c.(208-210)aCt>aAt	p.T70N		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTGCTCTTCACTGTTGTTTAC	0.567000													58	48					6.20943e-19	7.72829e-19	0.014410	1	0
DIP2C	22982	broad.mit.edu	37	10	445090	445090	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:445090C>T	ENST00000280886.6	-	10	1306	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	DIP2C_ENST00000381496.3_Missense_Mutation_p.E300K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	407						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGACCACCTCGGCCAGCAGG	0.617000													5	33					0	0	0.001168	0	0
CDH18	1016	broad.mit.edu	37	5	19483429	19483429	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:19483429G>A	ENST00000507958.1	-	14	2853	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000382275.1_Silent_p.L621L|CDH18_ENST00000274170.4_Silent_p.L621L|CDH18_ENST00000502796.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	621					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGAACACAGAGAAGAATAG	0.463000													11	21					0	0	0.008291	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076892	49076892	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr13:49076892G>A	ENST00000344532.3	-	11	1508	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	RCBTB2_ENST00000544492.1_Missense_Mutation_p.T88M|RCBTB2_ENST00000544904.1_3'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.T367M	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	362							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GACGGCGGGCGTGGCAAAGCA	0.612000													5	57					0	0	0.001168	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056533	26056533	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:26056533C>G	ENST00000343677.2	-	1	166	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	42	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GTGATGAGCTCTGACACCGGG	0.612000													10	90					0	0	0.006214	0	0
GRIA1	2890	broad.mit.edu	37	5	153026599	153026599	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:153026599C>T	ENST00000285900.5	+	3	675	c.332C>T	c.(331-333)cCg>cTg	p.P111L	GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Missense_Mutation_p.P121L|GRIA1_ENST00000340592.5_Missense_Mutation_p.P111L|GRIA1_ENST00000448073.4_Missense_Mutation_p.P121L|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.P42L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	111					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCATTACGCCGAGCTTTCCC	0.493000													6	72					0	0	0.004482	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919237	51919237	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:51919237C>T	ENST00000353836.5	-	5	1160	c.939G>A	c.(937-939)gtG>gtA	p.V313V	SIGLEC10_ENST00000339313.5_Silent_p.V313V|SIGLEC10_ENST00000439889.2_Silent_p.V255V|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Silent_p.V265V|SIGLEC10_ENST00000432469.2_Silent_p.V230V|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.V255V|SIGLEC10_ENST00000356298.5_Silent_p.V313V|SIGLEC10_ENST00000525998.1_Intron	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	313	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCCCAGCCTTCACCCCGGGCA	0.677000													7	38					0	0	0.004482	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													6	24					0	0	0.003080	0	0
CETN3	1070	broad.mit.edu	37	5	89695349	89695349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:89695349C>A	ENST00000283122.3	-	4	410	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	CETN3_ENST00000522083.1_Nonsense_Mutation_p.E96*|CETN3_ENST00000522565.1_Nonsense_Mutation_p.E96*|CETN3_ENST00000522864.1_Nonsense_Mutation_p.E96*	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	96	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		GGATCTCTTTCCAATATCCAG	0.318000													11	30					0.0135373	0.0141081	0.013537	1	0
ASPM	259266	broad.mit.edu	37	1	197091047	197091047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:197091047G>A	ENST00000367409.4	-	16	4124	c.3868C>T	c.(3868-3870)Cag>Tag	p.Q1290*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.Q540*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q1290*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1290					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGAGTACCTGATGGCGTTTG	0.318000													4	61					0	0	0.009096	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672564	113672564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:113672564C>A	ENST00000330212.3	+	3	478	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.S54Y	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	60						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ACATGTAAATCTTTACAGCCA	0.403000													17	72					1.45105e-14	1.75547e-14	0.006122	1	0
HFM1	164045	broad.mit.edu	37	1	91727880	91727880	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:91727880C>T	ENST00000370425.3	-	38	4254	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K	HFM1_ENST00000370424.3_Missense_Mutation_p.E1065K|HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1386							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GGGTTTTTTTCAGAGAAAGTA	0.284000													10	58					0	0	0.006214	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		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.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(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)		AGGAAGCCCTCCCGGGCAGCG	0.756000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	11					8.12818e-05	8.95653e-05	0.001984	1	0
MRPS30	10884	broad.mit.edu	37	5	44811123	44811123	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:44811123C>T	ENST00000507110.1	+	2	652	c.614C>T	c.(613-615)cCa>cTa	p.P205L		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	205					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TATAGATGCCCAGTTCATTTT	0.333000													4	48					0	0	0.009096	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091182	11091182	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:11091182G>C	ENST00000537503.1	-	1	680	c.625C>G	c.(625-627)Cgc>Ggc	p.R209G	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	209					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						ATCTTCTTGCGATGTTTCCAC	0.433000													12	59					0	0	0.010729	0	0
CUBN	8029	broad.mit.edu	37	10	16882891	16882891	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:16882891G>A	ENST00000377833.4	-	61	9884	c.9819C>T	c.(9817-9819)atC>atT	p.I3273I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3273	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACTGTCCATGATGGTGTATG	0.343000													8	41					0	0	0.006214	0	0
SYNE2	23224	broad.mit.edu	37	14	64491050	64491050	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:64491050C>T	ENST00000358025.3	+	39	5943	c.5713C>T	c.(5713-5715)Ctg>Ttg	p.L1905L	SYNE2_ENST00000554584.1_Silent_p.L1905L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.L1905L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1905					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGAAGCATCTGCCCAAAGC	0.433000													29	41					0	0	0.012213	0	0
EML1	2009	broad.mit.edu	37	14	100376629	100376629	+	Silent	SNP	T	T	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:100376629T>G	ENST00000262233.6	+	12	1429	c.1290T>G	c.(1288-1290)ggT>ggG	p.G430G	EML1_ENST00000327921.9_Silent_p.G418G|EML1_ENST00000334192.4_Silent_p.G449G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	430						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTGAAAACGGTGACACCATTA	0.333000													12	73					0	0	0.002450	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653801	46653801	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:46653801G>A	ENST00000253255.5	-	1	5418	c.5419C>T	c.(5419-5421)Cta>Tta	p.L1807L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1807					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCGGCAGGTAGACACATTTTT	0.403000													30	254					0	0	0.008361	0	0
RIF1	55183	broad.mit.edu	37	2	152289598	152289598	+	Silent	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:152289598A>G	ENST00000243326.4	+	9	1416	c.933A>G	c.(931-933)ctA>ctG	p.L311L	RIF1_ENST00000433166.2_Silent_p.L280L|RIF1_ENST00000453091.2_Silent_p.L311L|RIF1_ENST00000444746.2_Silent_p.L311L|RIF1_ENST00000428287.2_Silent_p.L311L|RIF1_ENST00000430328.2_Silent_p.L311L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	311					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGATATACTATGTAGTGCAA	0.358000													8	32					0	0	0.004482	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906200	144906200	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:144906200G>C	ENST00000370490.1	+	1	6512	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	SLITRK2_ENST00000413937.2_Missense_Mutation_p.E753Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E753Q|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E753Q|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E753Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	753						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGAGCCTGAGCTGCTGTA	0.488000													13	98					0	0	0.001855	0	0
HADHA	3030	broad.mit.edu	37	2	26455030	26455030	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:26455030T>C	ENST00000380649.3	-	6	700	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	HADHA_ENST00000457468.2_Missense_Mutation_p.M104V	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	191					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGACTCACCATTTTGGGCAGC	0.398000													13	31					0	0	0.002450	0	0
DHX15	1665	broad.mit.edu	37	4	24529592	24529592	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr4:24529592G>A	ENST00000336812.4	-	14	2499	c.2343C>T	c.(2341-2343)gaC>gaT	p.D781D	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	781					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAATGATGCGGTCCAACTGTC	0.393000													15	23					0	0	0.003163	0	0
GPR179	440435	broad.mit.edu	37	17	36483564	36483564	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:36483564G>A	ENST00000342292.4	-	11	5908	c.5888C>T	c.(5887-5889)aCt>aTt	p.T1963I	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1963						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W1960fs*10(1)|p.T1963N(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCTGGGGCAGTGGTCTCCCA	0.547000													15	32					0	0	0.004990	0	0
IRX1	79192	broad.mit.edu	37	5	3599777	3599777	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:3599777G>T	ENST00000302006.3	+	2	767	c.715G>T	c.(715-717)Gac>Tac	p.D239Y	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	239						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCACGATGGCGACCAGAGCAA	0.662000													13	28					6.31663e-08	7.23693e-08	0.003163	1	0
TUBB6	84617	broad.mit.edu	37	18	12310986	12310986	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr18:12310986G>A	ENST00000317702.5	+	3	445	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	TUBB6_ENST00000590967.1_Missense_Mutation_p.G71S|TUBB6_ENST00000591208.1_Missense_Mutation_p.G71S|TUBB6_ENST00000592683.1_Missense_Mutation_p.G71S|TUBB6_ENST00000591909.1_Missense_Mutation_p.G71S|TUBB6_ENST00000586653.1_Missense_Mutation_p.G71S			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	71					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTTAGAGCCAGGCACCATGGA	0.498000													4	45					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7578553	7578553	+	Splice_Site	SNP	T	T	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:7578553T>G	ENST00000420246.2	-	5	509	c.375_splice	c.e5-1	p.Y126_splice	TP53_ENST00000413465.2_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000445888.2_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(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)		GGCAGGGGAGTACTGTAGGAA	0.557000		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)			11	14					0	0	0.008291	0	0
MEX3A	92312	broad.mit.edu	37	1	156046882	156046882	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:156046882G>A	ENST00000532414.2	-	2	1045	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	349						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTCAAAGCCAGAGTCCACTCC	0.672000													6	84					0	0	0.001984	0	0
ABCC1	4363	broad.mit.edu	37	16	16232272	16232272	+	Silent	SNP	G	G	A	rs36115566		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:16232272G>A	ENST00000399408.2	+	31	4549	c.4374G>A	c.(4372-4374)acG>acA	p.T1458T	ABCC1_ENST00000346370.5_Silent_p.T1392T|ABCC1_ENST00000345148.5_Intron|ABCC1_ENST00000351154.5_Silent_p.T1389T|ABCC1_ENST00000399410.3_Silent_p.T1448T|ABCC1_ENST00000349029.5_Silent_p.T1333T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1448	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGAGGAAGACGAAGATCCTTG	0.597000													7	41					0	0	0.004482	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715746	77715746	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:77715746C>G	ENST00000298351.4	+	21	2127	c.1983C>G	c.(1981-1983)atC>atG	p.I661M		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	661						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCCAGGCCATCTTTGCGCCAC	0.562000													9	48					0	0	0.006214	0	0
KEAP1	9817	broad.mit.edu	37	19	10610402	10610402	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:10610402G>T	ENST00000171111.5	-	2	855	c.308C>A	c.(307-309)tCc>tAc	p.S103Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.S103Y	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	103	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACAGGGCTGGATGAGGCCAG	0.627000													13	27					0.0135373	0.0141081	0.013537	1	0
ZNF671	79891	broad.mit.edu	37	19	58238851	58238851	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:58238851G>A	ENST00000317398.6	-	1	141	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ZNF671_ENST00000335820.3_De_novo_Start_InFrame|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.R16W	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGCACTTCCGTCCCTGCAGA	0.672000													10	17					0	0	0.006214	0	0
CDH10	1008	broad.mit.edu	37	5	24537631	24537631	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:24537631G>A	ENST00000264463.4	-	3	891	c.384C>T	c.(382-384)cgC>cgT	p.R128R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R128R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGCTTGTGCGCGTAGAGTAT	0.413000										HNSCC(23;0.051)			28	59					0	0	0.008361	0	0
FAM102B	284611	broad.mit.edu	37	1	109167328	109167328	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:109167328A>G	ENST00000370035.3	+	6	854	c.514A>G	c.(514-516)Aga>Gga	p.R172G	FAM102B_ENST00000405454.1_Missense_Mutation_p.R172G	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	172										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GCAAGAAGATAGAAAAGGTGG	0.423000													26	39					0	0	0.006320	0	0
ERCC6	2074	broad.mit.edu	37	10	50732560	50732560	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:50732560C>A	ENST00000355832.5	-	5	994	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A306S|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A306S|PGBD3_ENST00000603152.1_Missense_Mutation_p.A306S	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	306					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGCACTGGGGCTGGAGGCGTG	0.428000								Direct reversal of damage;Nucleotide excision repair (NER)					66	110					5.00936e-31	6.32568e-31	0.014410	1	0
HOXA7	3204	broad.mit.edu	37	7	27194647	27194647	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:27194647C>T	ENST00000242159.3	-	2	707	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'UTR	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	192					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GTCGGACCTTCGTCCTTATGC	0.637000													11	120					0	0	0.008291	0	0
C1orf101	257044	broad.mit.edu	37	1	244641251	244641251	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:244641251G>A	ENST00000366534.4	+	4	286	c.232G>A	c.(232-234)Gct>Act	p.A78T	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_5'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.A78T	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	78						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGGTGTTCACGCTATAAAACC	0.318000													6	84					0	0	0.003080	0	0
HPS3	84343	broad.mit.edu	37	3	148880100	148880100	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:148880100G>C	ENST00000296051.2	+	12	2412	c.2272G>C	c.(2272-2274)Gaa>Caa	p.E758Q	HPS3_ENST00000460120.1_Missense_Mutation_p.E593Q	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	758						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGGAATTGAAGAAGCAGATTC	0.423000									Hermansky-Pudlak syndrome				7	89					0	0	0.003080	0	0
PDE3A	5139	broad.mit.edu	37	12	20769270	20769270	+	Missense_Mutation	SNP	G	G	A	rs141325069	byFrequency	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:20769270G>A	ENST00000359062.3	+	4	1416	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	459					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCACCAGTACGGAGAGACCGC	0.542000													8	89					0	0	0.006214	0	0
ZNF692	55657	broad.mit.edu	37	1	249152190	249152190	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:249152190C>T	ENST00000391820.3	-	3	420	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	ZNF692_ENST00000366471.3_Intron|ZNF692_ENST00000451251.1_Intron|ZNF692_ENST00000306601.4_Intron|ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000366469.5_Intron			Q9BU19	ZN692_HUMAN	zinc finger protein 692	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCAGGACCCTCGGAGGCCACA	0.632000													4	2					0	0	0.009096	0	0
LGALS1	3956	broad.mit.edu	37	22	38075659	38075659	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:38075659G>T	ENST00000215909.5	+	4	406	c.311G>T	c.(310-312)gGa>gTa	p.G104V	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	104	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CTGCCAGATGGATACGAATTC	0.562000													18	82					2.5808e-16	3.18913e-16	0.006122	1	0
MYO18A	399687	broad.mit.edu	37	17	27417044	27417044	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:27417044C>G	ENST00000527372.1	-	37	5641	c.5461G>C	c.(5461-5463)Gaa>Caa	p.E1821Q	MYO18A_ENST00000354329.4_Missense_Mutation_p.E1821Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1821Q|MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1784Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1821					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATCTTAGCTTCCTGCCTGCTC	0.577000													3	23					0	0	0.004672	0	0
C15orf27	123591	broad.mit.edu	37	15	76452436	76452436	+	Splice_Site	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:76452436T>C	ENST00000388942.3	+	5	659	c.382_splice	c.e5-1	p.F128_splice		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	128						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCATTGCAGTTTCCAGCGCA	0.557000													27	123					0	0	0.006320	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353864	45353864	+	Silent	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr20:45353864G>T	ENST00000359271.2	+	2	439	c.189G>T	c.(187-189)ctG>ctT	p.L63L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	63						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TCGCCTCCCTGGTTGGTGGCT	0.632000													15	41					6.31663e-08	7.23693e-08	0.003163	1	0
HFM1	164045	broad.mit.edu	37	1	91728133	91728133	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:91728133C>G	ENST00000370425.3	-	37	4089	c.3991G>C	c.(3991-3993)Gag>Cag	p.E1331Q	HFM1_ENST00000370424.3_Missense_Mutation_p.E1010Q|HFM1_ENST00000294696.5_Missense_Mutation_p.M532I|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1331							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCCGACATCTCATGTGATGAA	0.308000													8	59					0	0	0.003080	0	0
RECQL4	9401	broad.mit.edu	37	8	145740836	145740836	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:145740836C>T	ENST00000428558.2	-	7	1305	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	422					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGTCTTCCTCACTTGCTGGG	0.612000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	85					0	0	0.003080	0	0
PPRC1	23082	broad.mit.edu	37	10	103900410	103900410	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:103900410C>T	ENST00000278070.2	+	5	2184	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	PPRC1_ENST00000413464.2_Silent_p.S715S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTCAGAGTCCTTGGACCCAC	0.532000													8	61					0	0	0.006214	0	0
MPO	4353	broad.mit.edu	37	17	56349077	56349077	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:56349077C>T	ENST00000340482.3	-	10	2241	c.2065G>A	c.(2065-2067)Gtg>Atg	p.V689M	MPO_ENST00000225275.3_Missense_Mutation_p.V657M			P05164	PERM_HUMAN	myeloperoxidase	657					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGTGGGCCCACGCGGCCTTTG	0.632000													15	27					0	0	0.004990	0	0
PRR16	51334	broad.mit.edu	37	5	120021745	120021745	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:120021745G>T	ENST00000379551.2	+	3	544	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	PRR16_ENST00000505123.1_Missense_Mutation_p.G16C|PRR16_ENST00000446965.1_Missense_Mutation_p.G16C|PRR16_ENST00000407149.2_Missense_Mutation_p.G86C	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	86										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TAGCTCAAGTGGCACAACAGC	0.522000													5	36					1.23904e-05	1.38293e-05	0.000602	1	0
KIF5C	3800	broad.mit.edu	37	2	149850992	149850992	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:149850992A>G	ENST00000435030.1	+	17	2331	c.1963A>G	c.(1963-1965)Agg>Ggg	p.R655G	KIF5C_ENST00000414838.2_Missense_Mutation_p.R560G|KIF5C_ENST00000397413.1_Missense_Mutation_p.R423G|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	655					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ACAGAAGAGGAGGCAGCTAGA	0.493000													2	7					0	0	0.004672	0	0
KRT77	374454	broad.mit.edu	37	12	53086338	53086338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:53086338C>G	ENST00000341809.3	-	7	1322	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	KRT77_ENST00000537195.1_Missense_Mutation_p.E199Q	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	432	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGGGCCTCCTCCAGGTCCTGC	0.622000													9	38					0	0	0.006214	0	0
ELAVL3	1995	broad.mit.edu	37	19	11568882	11568882	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:11568882C>T	ENST00000359227.3	-	5	1131	c.707G>A	c.(706-708)cGt>cAt	p.R236H	ELAVL3_ENST00000438662.2_Missense_Mutation_p.R236H	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	236					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCACCGGAAACGCTGGGTCTG	0.677000													11	26					0	0	0.001855	0	0
FAT1	2195	broad.mit.edu	37	4	187539227	187539227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr4:187539227G>T	ENST00000441802.2	-	10	8722	c.8513C>A	c.(8512-8514)tCa>tAa	p.S2838*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2838	Cadherin 26.				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						GTTGGTTCCTGAGTCAGCATC	0.448000										HNSCC(5;0.00058)			26	33					1.38267e-23	1.73334e-23	0.005443	1	0
CELSR1	9620	broad.mit.edu	37	22	46760506	46760506	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:46760506G>A	ENST00000262738.3	-	33	8681	c.8682C>T	c.(8680-8682)cgC>cgT	p.R2894R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2894					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTGCTCCTCGCGGTGCAGCT	0.692000													16	64					0	0	0.004007	0	0
ZNF570	148268	broad.mit.edu	37	19	37976077	37976077	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:37976077G>A	ENST00000330173.1	+	5	2082	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ZNF570_ENST00000388801.3_Missense_Mutation_p.R315K|ZNF570_ENST00000586475.1_Missense_Mutation_p.R574K	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCACCAGAGAATTCACATT	0.423000													17	138					0	0	0.008871	0	0
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													7	7	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100473251	100473274	+	In_Frame_Del	DEL	GACAAGTTCAGAAGAGAGCGCAGC	GACAAGTTCAGAAGAGAGCGCAGC	-			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC	ENST00000388793.4	+	2	260_283	c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	c.(40-63)del	p.DKFRRERS14del	SRRT_ENST00000347433.4_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000457580.2_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000432932.1_In_Frame_Del_p.DKFRRERS14del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	14	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGGCGCAGGGACAAGTTCAGAAGAGAGCGCAGCGACTACGACC	0.580													32	93	---	---	---	---					
DPP6	1804	broad.mit.edu	37	7	154379739	154379740	+	Frame_Shift_Ins	INS	-	-	G	rs75213895	by1000genomes	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:154379739_154379740insG	ENST00000406326.1	+	6	1410_1411	c.1007_1008insG	c.(1006-1008)cggfs	p.R336fs	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGCTCACCCCGGGGATAATGC	0.589													11	90	---	---	---	---					
TBX21	30009	broad.mit.edu	37	17	45822284	45822285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:45822284_45822285insG	ENST00000177694.1	+	6	1371_1372	c.1160_1161insG	c.(1159-1161)cggfs	p.R387fs		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	387					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTACTGGCTGGGGGCCCCCC	0.614													10	122	---	---	---	---					
TEX19	400629	broad.mit.edu	37	17	80320301	80320302	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:80320301_80320302insG	ENST00000333437.4	+	2	585_586	c.275_276insG	c.(274-276)cggfs	p.R92fs		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	92						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGCCTGTGCAGGGGGGCTCTG	0.649													12	81	---	---	---	---					
PPP4R1	9989	broad.mit.edu	37	18	9559423	9559424	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr18:9559423_9559424insT	ENST00000400556.3	-	14	2094_2095	c.2021_2022insA	c.(2020-2022)gatfs	p.D674fs	PPP4R1_ENST00000400555.3_Frame_Shift_Ins_p.D657fs	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	674					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TCACCTGCATGTCTGAGGCCAG	0.460													146	160	---	---	---	---					
UBA52	7311	broad.mit.edu	37	19	18685943	18685945	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:18685943_18685945delAAG	ENST00000442744.2	+	5	428_430	c.370_372delAAG	c.(370-372)del	p.K126del	UBA52_ENST00000595158.1_In_Frame_Del_p.K126del|UBA52_ENST00000599595.1_In_Frame_Del_p.K126del|UBA52_ENST00000596273.1_In_Frame_Del_p.K126del|UBA52_ENST00000598780.1_In_Frame_Del_p.K126del|UBA52_ENST00000597451.1_In_Frame_Del_p.K126del|UBA52_ENST00000596304.1_In_Frame_Del_p.K126del|UBA52_ENST00000430157.2_In_Frame_Del_p.K126del|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000595683.1_In_Frame_Del_p.K126del|UBA52_ENST00000599551.1_In_Frame_Del_p.K126del	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	126					activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						CCTGCGTCCCAAGAAGAAGGTCA	0.567													9	58	---	---	---	---					
ACPT	93650	broad.mit.edu	37	19	51298400	51298401	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:51298400_51298401delGG	ENST00000270593.1	+	11	1266_1267	c.1266_1267delGG	c.(1264-1269)ttggfs	p.LG422fs	ACPT_ENST00000270594.3_Frame_Shift_Del_p.LG329fs	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	422						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCGGGCCTTGGGGGGCCCCGT	0.649													2	4	---	---	---	---					
MORC3	23515	broad.mit.edu	37	21	37741775	37741775	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr21:37741775delA	ENST00000400485.1	+	15	2185	c.2109delA	c.(2107-2109)ctfs	p.L705fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	705					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GAAACCAGCTACTCCTTGTCA	0.388													35	34	---	---	---	---