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
POLR2A	5430	broad.mit.edu	37	17	7416688	7416688	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:7416688C>T	ENST00000322644.6	+	29	5504	c.5105C>T	c.(5104-5106)aCa>aTa	p.T1702I		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1702	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.T1702I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				tactcaccgacatctcccagc	0.587000													5	19					0	0	0.014758	0	0
CDKAL1	54901	broad.mit.edu	37	6	20758841	20758841	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr6:20758841C>T	ENST00000274695.4	+	7	651	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CDKAL1_ENST00000378610.1_Missense_Mutation_p.R162C|CDKAL1_ENST00000378624.4_Missense_Mutation_p.R92C|RP3-348I23.2_ENST00000421167.1_RNA	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	162	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.R162C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GCAGATAGATCGTGTGGTAGA	0.328000													7	66					0	0	0.047766	0	0
OR5D14	219436	broad.mit.edu	37	11	55563608	55563608	+	Missense_Mutation	SNP	G	G	T	rs144571267	byFrequency	TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr11:55563608G>T	ENST00000335605.1	+	1	577	c.577G>T	c.(577-579)Gat>Tat	p.D193Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D193N(1)|p.D193Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCTGGCTCTGATATACTCAT	0.433000													35	366					1.06647e-15	1.36272e-15	0.064281	1	0
ITGAE	3682	broad.mit.edu	37	17	3638115	3638115	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:3638115T>A	ENST00000263087.4	-	21	2749	c.2651A>T	c.(2650-2652)cAa>cTa	p.Q884L	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	884					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.Q884L(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGTCACCTTTTGCATCCTCTT	0.557000													27	243					0	0	0.108266	0	0
SERPINA6	866	broad.mit.edu	37	14	94780977	94780977	+	Silent	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr14:94780977G>A	ENST00000341584.3	-	2	155	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	3					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.L3L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGTACAGGAGGAGTGGCATTG	0.547000													12	143					0	0	0.093190	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			14	101					0	0	0.033300	0	0
MUC3A	4584	broad.mit.edu	37	7	100608884	100608884	+	Missense_Mutation	SNP	G	G	A	rs73163797	by1000genomes	TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:100608884G>A	ENST00000319509.7	+	7	2263	c.2263G>A	c.(2263-2265)Gcg>Acg	p.A755T	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated									p.A755T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAGCGGTCCCGCGTGTCGGTA	0.667000													3	9					0	0	0.014758	0	0
KLHL1	57626	broad.mit.edu	37	13	70314633	70314633	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr13:70314633G>T	ENST00000377844.4	-	8	2454	c.1695C>A	c.(1693-1695)agC>agA	p.S565R	KLHL1_ENST00000545028.1_Missense_Mutation_p.S372R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	565					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S565R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TATTCAGATAGCTCCAGCCAT	0.418000													10	116					3.86212e-05	4.55532e-05	0.069234	1	0
MC5R	4161	broad.mit.edu	37	18	13826014	13826014	+	Silent	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr18:13826014C>T	ENST00000324750.3	+	1	472	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	84					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.L84L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GGCGGACATGCTGGTGAGCAT	0.522000													3	53					0	0	0.004672	0	0
ZNF425	155054	broad.mit.edu	37	7	148800831	148800831	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:148800831G>A	ENST00000378061.2	-	4	2264	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	711					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.A711V(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCACAGATGGGCCTTCAGGCT	0.557000													23	94					0	0	0.083992	0	0
PHF1	5252	broad.mit.edu	37	6	33380553	33380553	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr6:33380553G>A	ENST00000374516.3	+	4	591	c.320G>A	c.(319-321)tGt>tAt	p.C107Y	PHF1_ENST00000459809.1_3'UTR|PHF1_ENST00000374512.3_Missense_Mutation_p.C107Y	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	107					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C107Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGGTCAGCTGTGAGAAGTGT	0.577000													7	103					0	0	0.038147	0	0
ALX1	8092	broad.mit.edu	37	12	85677431	85677431	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr12:85677431G>A	ENST00000316824.3	+	2	463	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	103					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R103Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AACAGTCTCCGAATGTCTCCC	0.478000													10	84					0	0	0.093190	0	0
CSMD2	114784	broad.mit.edu	37	1	34071024	34071024	+	Silent	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr1:34071024G>A	ENST00000373381.4	-	42	6566	c.6390C>T	c.(6388-6390)ggC>ggT	p.G2130G	CSMD2_ENST00000373377.1_Silent_p.G229G|CSMD2_ENST00000373380.1_Silent_p.G1003G|CSMD2_ENST00000373388.2_Silent_p.G229G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2132	Sushi 12.					integral to membrane|plasma membrane	protein binding	p.G2132G(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTCACAATGCCATTGGCAA	0.517000													9	82					0	0	0.058154	0	0
CHD9	80205	broad.mit.edu	37	16	53326814	53326814	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr16:53326814G>A	ENST00000566029.1	+	29	5569	c.5360G>A	c.(5359-5361)cGt>cAt	p.R1787H	CHD9_ENST00000398510.3_Missense_Mutation_p.R1787H|CHD9_ENST00000564845.1_Missense_Mutation_p.R1787H|CHD9_ENST00000447540.1_Missense_Mutation_p.R1787H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1787					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R1787H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CGTTTGAGGCGTCTCATCACT	0.388000													26	140					0	0	0.091800	0	0
CD34	947	broad.mit.edu	37	1	208073342	208073342	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr1:208073342C>T	ENST00000356522.4	-	2	407	c.86G>A	c.(85-87)gGg>gAg	p.G29E	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000310833.7_Missense_Mutation_p.G29E	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	29					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	p.G29E(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACTCATGAACCCAGAAGCTAT	0.423000													10	55					0	0	0.058154	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813423	25813423	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr6:25813423A>G	ENST00000244527.4	-	7	750	c.635T>C	c.(634-636)gTa>gCa	p.V212A	SLC17A1_ENST00000468082.1_Missense_Mutation_p.V212A|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V212A|SLC17A1_ENST00000427328.1_Missense_Mutation_p.V212A	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	212					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.V212A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GAGAAGACATACGGCACAGCC	0.438000													5	40					0	0	0.029380	0	0
CDC23	8697	broad.mit.edu	37	5	137527959	137527959	+	Splice_Site	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr5:137527959G>A	ENST00000394886.2	-	11	1315	c.1286_splice	c.e11+1	p.R429_splice		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	429					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	p.R423*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGGCTTACCGAAGCTGGTGG	0.438000													18	97					0	0	0.033300	0	0
BPIFC	254240	broad.mit.edu	37	22	32833811	32833811	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr22:32833811A>T	ENST00000397452.1	-	8	793	c.683T>A	c.(682-684)cTg>cAg	p.L228Q	BPIFC_ENST00000300399.3_Missense_Mutation_p.L228Q|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Missense_Mutation_p.L42Q			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	228						extracellular region	lipopolysaccharide binding|phospholipid binding	p.L228Q(1)									GTAATCCAGCAGAGTGTAGTT	0.343000													8	79					0	0	0.047766	0	0
RASA2	5922	broad.mit.edu	37	3	141295935	141295935	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr3:141295935G>A	ENST00000286364.3	+	15	1612	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	RASA2_ENST00000452898.1_Missense_Mutation_p.R526Q			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	526	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.R526Q(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTTCATTTGCGACCTCATCAT	0.343000													21	204					0	0	0.099896	0	0
G6PD	2539	broad.mit.edu	37	X	153764207	153764207	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chrX:153764207G>A	ENST00000393562.2	-	4	685	c.302C>T	c.(301-303)gCc>gTc	p.A101V	G6PD_ENST00000369620.2_Missense_Mutation_p.A71V|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393564.2_Missense_Mutation_p.A71V	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	71					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	p.A71V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGGGAACGGGCATAGCCCAC	0.627000													4	56					0	0	0.009096	0	0
PCDH1	5097	broad.mit.edu	37	5	141233671	141233671	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr5:141233671G>A	ENST00000287008.3	-	5	3797	c.3650C>T	c.(3649-3651)tCg>tTg	p.S1217L	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.S1217L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGGAAGTCCGAGGTCTGGGT	0.677000													4	14					0	0	0.014758	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885731	88885731	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr8:88885731C>T	ENST00000319675.3	-	1	565	c.469G>A	c.(469-471)Gtg>Atg	p.V157M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	157								p.V157M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGAGCAGCACGGCACAGCTT	0.552000													7	109					0	0	0.038147	0	0
TMEM106B	54664	broad.mit.edu	37	7	12270022	12270022	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:12270022A>G	ENST00000396667.2	+	7	912	c.590A>G	c.(589-591)tAc>tGc	p.Y197C	TMEM106B_ENST00000396668.3_Missense_Mutation_p.Y197C	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	197				Y -> N (in Ref. 2; BAD96983).		integral to membrane		p.Y197C(1)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		CAGATTGATTACACAGTACCT	0.264000													8	114					0	0	0.038147	0	0
SEPT4	5414	broad.mit.edu	37	17	56606477	56606477	+	Splice_Site	SNP	C	C	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:56606477C>A	ENST00000317268.3	-	1	235	c.60_splice	c.e1+1	p.G20_splice	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_Intron|SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000426861.1_Intron|SEPT4_ENST00000579371.1_Splice_Site_p.G20_splice|SEPT4_ENST00000580809.1_Intron|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_Intron|SEPT4_ENST00000580844.1_Splice_Site_p.G20_splice	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	20					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G20V(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACCTTACCCCAGCTTCAGT	0.552000													5	83					0.00116845	0.00131094	0.021553	1	0
OR4K17	390436	broad.mit.edu	37	14	20586121	20586121	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr14:20586121C>T	ENST00000315543.4	+	1	556	c.556C>T	c.(556-558)Cac>Tac	p.H186Y		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H186Y(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGGTCTCCTTCACTCAGGGTT	0.453000													33	285					0	0	0.045705	0	0
HIRA	7290	broad.mit.edu	37	22	19398295	19398295	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr22:19398295G>A	ENST00000263208.5	-	2	300	c.44C>T	c.(43-45)cCg>cTg	p.P15L	HIRA_ENST00000541063.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.P15L|HIRA_ENST00000546308.1_5'UTR|HIRA_ENST00000464189.1_5'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	15					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P15L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGAAAAAATCGGCTTGCCTGG	0.378000													34	293					0	0	0.074837	0	0
DMD	1756	broad.mit.edu	37	X	31496381	31496381	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chrX:31496381T>A	ENST00000357033.4	-	59	8985	c.8779A>T	c.(8779-8781)Aga>Tga	p.R2927*	DMD_ENST00000541735.1_Nonsense_Mutation_p.R467*|DMD_ENST00000343523.2_Nonsense_Mutation_p.R467*|DMD_ENST00000359836.1_Nonsense_Mutation_p.R467*|DMD_ENST00000378707.3_Nonsense_Mutation_p.R467*|DMD_ENST00000474231.1_Nonsense_Mutation_p.R467*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R2923*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2927					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R2923*(1)|p.R1586*(1)|p.R2927*(1)|p.R467*(1)|p.R2922*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTATTTTTCTCTGCCAGTCA	0.527000													10	125					0	0	0.058154	0	0
TTN	7273	broad.mit.edu	37	2	179440815	179440815	+	Silent	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr2:179440815G>A	ENST00000589042.1	-	326	70268	c.70044C>T	c.(70042-70044)gcC>gcT	p.A23348A	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.A14283A|TTN_ENST00000342992.6_Silent_p.A20780A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.A14475A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A21707A|TTN_ENST00000359218.5_Silent_p.A14408A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21707	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A14475A(1)|p.A14408A(1)|p.A20778A(1)|p.A20780A(1)|p.A14283A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGAAGCTCGGCATCTAGTT	0.468000													15	156					0	0	0.024245	0	0
SLC9A9	285195	broad.mit.edu	37	3	143550932	143550932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr3:143550932C>A	ENST00000316549.6	-	2	515	c.307G>T	c.(307-309)Gaa>Taa	p.E103*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	103					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.E103*(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TATTTATATTCATAAACTTGG	0.338000													17	144					3.45872e-05	4.18687e-05	0.028581	1	0
RAG1	5896	broad.mit.edu	37	11	36597479	36597479	+	Silent	SNP	C	C	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr11:36597479C>T	ENST00000299440.5	+	2	2737	c.2625C>T	c.(2623-2625)tcC>tcT	p.S875S		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	875					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.S875S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TAATTCCTTCCGAGGAGAGGC	0.483000									Familial Hemophagocytic Lymphohistiocytosis				15	123					0	0	0.033300	0	0
PMS1	5378	broad.mit.edu	37	2	190742066	190742066	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr2:190742066C>G	ENST00000441310.2	+	13	2936	c.2703C>G	c.(2701-2703)atC>atG	p.I901M	PMS1_ENST00000418224.3_Missense_Mutation_p.I725M|PMS1_ENST00000447232.2_Missense_Mutation_p.I739M|PMS1_ENST00000409823.3_Missense_Mutation_p.I862M|PMS1_ENST00000432292.3_Missense_Mutation_p.I725M	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	901					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.I901M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AAGACATTATCTACAGAATGA	0.378000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					12	117					0	0	0.080935	0	0
MXRA5	25878	broad.mit.edu	37	X	3235707	3235707	+	Silent	SNP	G	G	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chrX:3235707G>A	ENST00000217939.6	-	6	6169	c.6015C>T	c.(6013-6015)caC>caT	p.H2005H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2005	Ig-like C2-type 4.					extracellular region		p.H2005H(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCGGTTTTCGTGCAGGGTGA	0.622000													6	43					0	0	0.029380	0	0
OR5D14	219436	broad.mit.edu	37	11	55563607	55563607	+	Silent	SNP	T	T	A			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr11:55563607T>A	ENST00000335605.1	+	1	576	c.576T>A	c.(574-576)tcT>tcA	p.S192S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D193Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTCTGGCTCTGATATACTCA	0.428000													34	372					0	0	0.059317	0	0
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			35	194					0	0	0.059317	0	0
BCAS3	54828	broad.mit.edu	37	17	59024579	59024579	+	Splice_Site	SNP	G	G	T			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:59024579G>T	ENST00000589222.1	+	14	1155		c.e14-1		BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus		p.?(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTGTCTTCCAGGAATGCTTCT	0.353000													24	250					1.77063e-15	2.20133e-15	0.108266	1	0
C8orf59	401466	broad.mit.edu	37	8	86129664	86129664	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr8:86129664delT	ENST00000417663.2	-	2	136	c.65delA	c.(64-66)acfs	p.N22fs	C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	AGCCTTAAAGTTTTTTTGGCT	0.343													8	261	---	---	---	---					
PHF20L1	51105	broad.mit.edu	37	8	133855032	133855032	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr8:133855032delT	ENST00000395386.2	+	19	2959	c.2660delT	c.(2659-2661)gtfs	p.V887fs	PHF20L1_ENST00000220847.7_Frame_Shift_Del_p.V274fs|PHF20L1_ENST00000395390.2_Frame_Shift_Del_p.V862fs|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	887							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATGATGATGTTAGTAGTTTG	0.383													18	208	---	---	---	---					
LINC00987	100499405	broad.mit.edu	37	12	9392739	9392740	+	RNA	INS	-	-	TCTTCCTCCTCC	rs71045240		TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr12:9392739_9392740insTCTTCCTCCTCC	ENST00000427111.3	+	0	141_142					NR_036466.1																						caccatcaccttcttcctcccc	0.545													2	4	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													4	8	---	---	---	---					
MYH3	4621	broad.mit.edu	37	17	10542739	10542739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:10542739delA	ENST00000583535.1	-	24	3065	c.2978delT	c.(2977-2979)tafs	p.L993fs	MYH3_ENST00000226209.7_Frame_Shift_Del_p.L993fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	993					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCTCTGGTTAACTTTGCAAT	0.413													11	90	---	---	---	---					
RUNDC1	146923	broad.mit.edu	37	17	41132982	41132982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:41132982delC	ENST00000361677.1	+	1	401	c.389delC	c.(388-390)gcfs	p.A130fs		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	130										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAGACTTCGCCTTCCGCGGC	0.726													2	4	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-38-4627-01A-01D-1553-08	TCGA-38-4627-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abef97da-d7db-495f-b594-fa66577becd6	21d49f80-fd21-421f-a3bd-5f39b1ac3e48	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													5	4	---	---	---	---