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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	36					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005165	248005165	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr1:248005165A>C	ENST00000355784.2	-	1	89	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACAGCTGAAAGTTAGTCACA	0.458000													11	78					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986306	46986306	+	Silent	SNP	T	T	C			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr2:46986306T>C	ENST00000306503.5	+	2	809	c.637T>C	c.(637-639)Tta>Cta	p.L213L	SOCS5_ENST00000394861.2_Silent_p.L213L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	213					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TCTCTCTGAATTAATGCTTGA	0.418000													29	80					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36976433	36976433	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr5:36976433C>A	ENST00000282516.8	+	9	1923	c.1424C>A	c.(1423-1425)gCt>gAt	p.A475D	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.A475D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	475					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATGCATTGGCTGAAATTGAG	0.383000													12	113					1.08611e-07	1.18614e-07	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70228034	70228034	+	Silent	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr7:70228034C>T	ENST00000342771.4	+	7	1242	c.921C>T	c.(919-921)ccC>ccT	p.P307P	AUTS2_ENST00000406775.2_Silent_p.P307P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	307										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCCAATACCCCAGCCGCAGA	0.602000													7	84					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323897	31323897	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr18:31323897C>A	ENST00000269197.5	+	12	4085	c.4085C>A	c.(4084-4086)cCa>cAa	p.P1362Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTGATTCCCCCAATGGGAATT	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	140					2.12542e-12	2.52014e-12	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50667128	50667128	+	Silent	SNP	T	T	C			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr10:50667128T>C	ENST00000355832.5	-	21	4293	c.4215A>G	c.(4213-4215)ttA>ttG	p.L1405L	ERCC6_ENST00000542458.1_Silent_p.L775L|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1405	Ubiquitin-binding domain (UBD).				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						TTTCACTTTCTAAACGCTCTG	0.532000								Direct reversal of damage;Nucleotide excision repair (NER)					17	126					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220167070	220167070	+	Silent	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr2:220167070G>A	ENST00000295718.2	-	6	1023	c.783C>T	c.(781-783)taC>taT	p.Y261Y	PTPRN_ENST00000409251.3_Silent_p.Y261Y|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.Y171Y	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	261					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAAGGTCCCCGTAGGAGTGGC	0.632000													12	35					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161273	185161273	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr3:185161273G>T	ENST00000265026.3	+	4	1034	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.E90*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.E27*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.E90*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E234*	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	234	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TATTATCATGGAATACTGTGC	0.413000													28	80					4.59853e-10	5.30108e-10	1	1	0
HSPH1	10808	broad.mit.edu	37	13	31712668	31712668	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr13:31712668T>G	ENST00000320027.5	-	17	2590	c.2246A>C	c.(2245-2247)aAa>aCa	p.K749T	HSPH1_ENST00000380406.5_Missense_Mutation_p.K708T|HSPH1_ENST00000429785.2_Missense_Mutation_p.K568T|HSPH1_ENST00000380405.4_Missense_Mutation_p.K705T|HSPH1_ENST00000445273.2_Missense_Mutation_p.K751T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	749					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTCCACTTTTTTCATTTCAGA	0.348000													44	64					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155718082	155718082	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr6:155718082A>T	ENST00000159060.2	-	13	1697	c.1595T>A	c.(1594-1596)gTg>gAg	p.V532E		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	532							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACAGAAGAACACGCCAATACT	0.443000													16	57					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105577254	105577254	+	Splice_Site	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr6:105577254C>T	ENST00000314641.5	-	3	567	c.351_splice	c.e3+1	p.P117_splice	BVES_ENST00000336775.5_Splice_Site_p.P117_splice|BVES_ENST00000446408.2_Splice_Site_p.P117_splice	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	117					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				taataattaCCGGTCTCTTCT	0.333000													3	32					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85731316	85731316	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr4:85731316C>A	ENST00000322366.6	-	14	2476	c.2069G>T	c.(2068-2070)tGc>tTc	p.C690F	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.C690F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	690						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCAACGTGCAGAACACAGT	0.453000													16	73					0.000308642	0.000320216	1	1	0
ZNF106	64397	broad.mit.edu	37	15	42742156	42742156	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr15:42742156G>A	ENST00000263805.4	-	2	2571	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106									p.P749T(1)									TTGAGGTTTGGCTCAGGAAGG	0.512000													17	91					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	215013863	215013863	+	Splice_Site	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr2:215013863G>A	ENST00000331683.5	+	15	1688		c.e15-1		SPAG16_ENST00000374309.3_Splice_Site	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16						cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ATATTTTGAAGGGTCACATGA	0.353000													9	54					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142196	133142196	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr8:133142196C>T	ENST00000388996.4	-	15	2352	c.1932G>A	c.(1930-1932)atG>atA	p.M644I	KCNQ3_ENST00000521134.1_Missense_Mutation_p.M524I|KCNQ3_ENST00000519445.1_Missense_Mutation_p.M632I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	644					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCATGTGTTGCATGTGCATAT	0.517000													12	132					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10251548	10251548	+	Silent	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr19:10251548G>A	ENST00000340748.4	-	31	3619	c.3384C>T	c.(3382-3384)agC>agT	p.S1128S	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Silent_p.S1128S|DNMT1_ENST00000359526.4_Silent_p.S1144S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1128	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCTCTGGCTCGCTCGGCTCAC	0.612000													19	55					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123433371	123433371	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr12:123433371G>A	ENST00000542678.1	-	5	3691	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	ABCB9_ENST00000346530.5_Missense_Mutation_p.L285F|ABCB9_ENST00000442028.2_Missense_Mutation_p.L285F|ABCB9_ENST00000540285.1_Missense_Mutation_p.L285F|ABCB9_ENST00000280560.8_Missense_Mutation_p.L285F|ABCB9_ENST00000392439.3_Missense_Mutation_p.L285F|ABCB9_ENST00000442833.2_Missense_Mutation_p.L285F|ABCB9_ENST00000344275.7_Missense_Mutation_p.L285F			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	285	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CGGGAGATGAGGTCCCCTGGA	0.627000													7	38					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299702	107299702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr11:107299702C>T	ENST00000282251.5	-	8	1283	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*	CWF19L2_ENST00000433523.1_Nonsense_Mutation_p.W419*	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	419							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGAGCGACTCCATGATGTTAA	0.423000													18	125					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24728412	24728412	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr14:24728412G>C	ENST00000206765.6	-	7	1151	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	343					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTAATCACCAGACCAGTTCCC	0.597000													11	31					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77227499	77227499	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr18:77227499G>A	ENST00000253506.5	+	8	2378	c.2009G>A	c.(2008-2010)aGc>aAc	p.S670N	NFATC1_ENST00000592223.1_Missense_Mutation_p.S657N|NFATC1_ENST00000542384.1_Missense_Mutation_p.S670N|NFATC1_ENST00000427363.2_Missense_Mutation_p.S670N|NFATC1_ENST00000397790.2_Missense_Mutation_p.S198N|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000329101.4_Missense_Mutation_p.S657N|NFATC1_ENST00000318065.5_Missense_Mutation_p.S657N|NFATC1_ENST00000586434.1_Missense_Mutation_p.S657N|NFATC1_ENST00000591814.1_Missense_Mutation_p.S670N|NFATC1_ENST00000545796.1_Missense_Mutation_p.S198N	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	670					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGGATAACCAGCCCCGTTCAC	0.547000													5	36					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220419213	220419213	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr2:220419213G>A	ENST00000404537.1	-	15	4915	c.4859C>T	c.(4858-4860)gCc>gTc	p.A1620V	OBSL1_ENST00000373876.1_Missense_Mutation_p.A1528V|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1620					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AATGAGTCTGGCTGCGCAGCG	0.622000													6	60					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876542	35876542	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr5:35876542A>C	ENST00000303115.3	+	8	1463	c.1334A>C	c.(1333-1335)cAa>cCa	p.Q445P	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	445					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GGATCAAATCAAGAAGAAGCA	0.463000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						5	45					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588905	153588905	+	Silent	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chrX:153588905G>A	ENST00000422373.1	-	22	3506	c.3258C>T	c.(3256-3258)gcC>gcT	p.A1086A	FLNA_ENST00000344736.4_Silent_p.A1086A|FLNA_ENST00000360319.4_Silent_p.A1086A|FLNA_ENST00000369850.3_Silent_p.A1086A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1086					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGAAGCGGGCGGGGGAGC	0.687000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	57					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554683	19554683	+	Silent	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr3:19554683C>T	ENST00000328405.2	+	13	2567	c.2301C>T	c.(2299-2301)atC>atT	p.I767I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	767						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTCGCCTATCAGAGTCTCCA	0.463000													29	65					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122454	17122454	+	Silent	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr19:17122454G>A	ENST00000443236.1	-	4	553	c.522C>T	c.(520-522)ggC>ggT	p.G174G	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Silent_p.G127G	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	127						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ATACAGAAGCGCCCCGGCCGT	0.662000													21	104					0	0	1	0	0
GSK3A	2931	broad.mit.edu	37	19	42738508	42738508	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr19:42738508T>C	ENST00000398249.4	-	5	2368	c.655A>G	c.(655-657)Atc>Gtc	p.I219V	GSK3A_ENST00000222330.3_Missense_Mutation_p.I301V			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	301	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CTCTGACCGATGGATGAGGTG	0.527000													26	51					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41461745	41461745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr1:41461745G>T	ENST00000543104.1	+	8	948	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S	CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000372616.1_Intron|CTPS1_ENST00000372621.4_Intron			P17812	PYRG1_HUMAN	CTP synthase 1	0	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	TGACAGGTTTGCCTGCAATGA	0.473000													3	29					0.00909568	0.00932026	1	1	0
RP1	6101	broad.mit.edu	37	8	55539326	55539326	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr8:55539326G>A	ENST00000220676.1	+	4	3032	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACAAATTCTGGAAAAATAAG	0.313000													14	93					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5769069	5769069	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr10:5769069G>T	ENST00000328090.5	+	10	1095	c.470G>T	c.(469-471)cGt>cTt	p.R157L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	157																	CATTTATTTCGTTCACCCCTG	0.423000													9	81					1.12685e-05	1.21466e-05	1	1	0
IP6K2	51447	broad.mit.edu	37	3	48732453	48732453	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr3:48732453G>A	ENST00000431721.2	-	3	674	c.437C>T	c.(436-438)cCc>cTc	p.P146L	IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000449610.1_Missense_Mutation_p.P91L|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000446860.1_Missense_Mutation_p.P149L|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000417896.1_Missense_Mutation_p.P91L|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000453202.1_Missense_Mutation_p.P91L|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000443964.1_Missense_Mutation_p.P150L	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	178					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TGGCTGCCAGGGCCTTCCATG	0.612000													4	28					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11606342	11606342	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr3:11606342T>A	ENST00000273038.3	-	4	771	c.406A>T	c.(406-408)Acc>Tcc	p.T136S	VGLL4_ENST00000424529.2_Missense_Mutation_p.T52S|VGLL4_ENST00000451674.2_Missense_Mutation_p.T56S|VGLL4_ENST00000413604.1_Missense_Mutation_p.T77S|VGLL4_ENST00000430365.2_Missense_Mutation_p.T142S|VGLL4_ENST00000404339.1_Missense_Mutation_p.T141S	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CTGTTCTTGGTCAGTGCGAGG	0.716000													3	20					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83330580	83330580	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr15:83330580G>T	ENST00000261722.3	-	24	3163	c.2956C>A	c.(2956-2958)Cag>Aag	p.Q986K	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.Q954K|AP3B2_ENST00000535359.1_Missense_Mutation_p.Q1005K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	986					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CACTCACCCTGTTCCTTCTTA	0.532000													9	11					0.0692343	0.0692343	1	1	0
TRIO	7204	broad.mit.edu	37	5	14502699	14502699	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr5:14502699G>A	ENST00000344204.4	+	54	8368	c.8344G>A	c.(8344-8346)Gat>Aat	p.D2782N	TRIO_ENST00000537187.1_Missense_Mutation_p.D2606N|TRIO_ENST00000344135.5_Missense_Mutation_p.D281N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2782					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCAGGGATGGATGGGATCAT	0.537000													30	53					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799682	5799682	+	Silent	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr11:5799682C>T	ENST00000317093.2	-	1	215	c.183G>A	c.(181-183)gaG>gaA	p.E61E	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GATGTAAGGACTCCTCATAAT	0.448000													19	116					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52499287	52499287	+	Silent	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr1:52499287G>A	ENST00000371614.1	-	1	201	c.147C>T	c.(145-147)taC>taT	p.Y49Y	TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	49							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CAGAATCGCCGTACACCGCTG	0.672000													3	24					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61648985	61648985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr18:61648985C>T	ENST00000397985.2	+	4	593	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	SERPINB8_ENST00000353706.2_Nonsense_Mutation_p.Q113*|SERPINB8_ENST00000397988.3_Nonsense_Mutation_p.Q113*|HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	113					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.Q113E(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GAAGTTCTATCAGGCAGAGCT	0.418000													12	133					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55241708	55241708	+	Missense_Mutation	SNP	G	G	C	rs121913428		TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr7:55241708G>C	ENST00000275493.2	+	18	2333	c.2156G>C	c.(2155-2157)gGc>gCc	p.G719A	EGFR_ENST00000455089.1_Missense_Mutation_p.G674A|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G666A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase.		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; 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.G719A(27)|p.G719D(4)|p.G719fs*29(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)	AAAGTGCTGGGCTCCGGTGCG	0.582000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			34	87					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	990032	990032	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr12:990032C>A	ENST00000537687.1	+	12	4401	c.3758C>A	c.(3757-3759)aCa>aAa	p.T1253K	WNK1_ENST00000530271.2_Missense_Mutation_p.T1491K|WNK1_ENST00000315939.6_Missense_Mutation_p.T993K|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.T586K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	993					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACTTTCCCACAGTGGTGCAG	0.512000													27	156					3.6726e-16	4.48274e-16	1	1	0
CLEC1A	51267	broad.mit.edu	37	12	10228168	10228168	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr12:10228168C>A	ENST00000315330.4	-	4	540	c.478G>T	c.(478-480)Gac>Tac	p.D160Y	CLEC1A_ENST00000420265.2_Missense_Mutation_p.D68Y|CLEC1A_ENST00000457018.2_Missense_Mutation_p.D127Y	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	160	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TATTTACAGTCCTCCCAACTT	0.403000													8	71					0.0381472	0.0386124	1	1	0
ZNF667	63934	broad.mit.edu	37	19	56953248	56953248	+	Silent	SNP	G	G	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr19:56953248G>T	ENST00000504904.3	-	7	1835	c.1116C>A	c.(1114-1116)acC>acA	p.T372T	ZNF667_ENST00000292069.6_Silent_p.T372T|ZNF667_ENST00000342634.3_Silent_p.T500T|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCAGAATAAGGGTTGAAAGCC	0.383000													18	58					9.16793e-09	1.04238e-08	1	1	0
LPCAT3	10162	broad.mit.edu	37	12	7086586	7086586	+	Silent	SNP	G	G	A	rs117996263	byFrequency	TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr12:7086586G>A	ENST00000261407.4	-	11	1375	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	430					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AACCCATGAAGAGCCAGTGGA	0.552000													4	71					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141329038	141329038	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr5:141329038A>T	ENST00000231484.3	-	3	4299	c.3089T>A	c.(3088-3090)cTg>cAg	p.L1030Q		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1030					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCTAGCAGTTGCTTCAC	0.577000													35	177					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918834	51918834	+	Missense_Mutation	SNP	C	C	T	rs145933557		TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr19:51918834C>T	ENST00000353836.5	-	6	1281	c.1060G>A	c.(1060-1062)Gca>Aca	p.A354T	SIGLEC10_ENST00000441969.3_Missense_Mutation_p.A296T|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.A264T|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.A206T|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.A271T|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.A296T|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.A354T|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.A306T|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.A354T	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	354	Ig-like C2-type 3.				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)		GTCCTGTTTGCTTGGGAAACC	0.602000													38	127					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	347147	347147	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr12:347147C>T	ENST00000343164.4	-	5	560	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G78S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	170					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)			TTCAGGGAGCCGTTGGTCTTC	0.522000													4	53					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99554620	99554620	+	Silent	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr13:99554620C>T	ENST00000376460.1	-	12	1382	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	DOCK9_ENST00000448493.2_Silent_p.A446A|DOCK9_ENST00000442173.1_Silent_p.A434A|DOCK9_ENST00000339416.2_Silent_p.A435A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	435					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATTCATCAGCGCCGGGGACG	0.542000													13	59					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50119766	50119766	+	RNA	SNP	A	A	C			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chrX:50119766A>C	ENST00000376025.2	-	0	3321							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTGCTGATGAGGTTTTCTGC	0.527000													5	37					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792834	131792834	+	Silent	SNP	C	C	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr8:131792834C>A	ENST00000286355.5	-	18	5650	c.3558G>T	c.(3556-3558)ctG>ctT	p.L1186L	ADCY8_ENST00000377928.3_Silent_p.L1055L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1186					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTGCCCAGGCAGTCTTCTTG	0.498000										HNSCC(32;0.087)			21	125					4.96729e-08	5.57142e-08	1	1	0
SLC35F2	54733	broad.mit.edu	37	11	107682427	107682427	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr11:107682427C>T	ENST00000525071.1	-	6	968	c.380G>A	c.(379-381)aGa>aAa	p.R127K	SLC35F2_ENST00000375682.4_Missense_Mutation_p.R80K|SLC35F2_ENST00000429869.1_Missense_Mutation_p.R127K|SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000525815.1_Missense_Mutation_p.R127K			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	127					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CTGGTAGGCTCTGACGATCAC	0.428000													43	100					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98565299	98565299	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr7:98565299T>C	ENST00000359863.4	+	50	7678	c.7469T>C	c.(7468-7470)tTc>tCc	p.F2490S	TRRAP_ENST00000355540.3_Missense_Mutation_p.F2472S|TRRAP_ENST00000446306.3_Missense_Mutation_p.F2472S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2490					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGAACCACTTCTGGATCAAG	0.532000													7	47					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100971013	100971013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr9:100971013C>G	ENST00000375066.5	-	9	2178	c.2087G>C	c.(2086-2088)cGc>cCc	p.R696P	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R236P|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R478P|TBC1D2_ENST00000375064.1_Missense_Mutation_p.R696P	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	696	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGCACCCGGCGGAGCTTGTC	0.612000													7	52					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12195178	12195178	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr3:12195178G>A	ENST00000287814.4	-	5	1022	c.512C>T	c.(511-513)tCg>tTg	p.S171L	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	171							metal ion binding|metalloendopeptidase inhibitor activity	p.S171L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GTTAGGGGCCGAGATGGTACA	0.498000													8	109					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	48					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144823	11144823	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr19:11144823G>A	ENST00000358026.2	+	28	4182	c.3898G>A	c.(3898-3900)Gag>Aag	p.E1300K	SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1267K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1267K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1267K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1267K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1300K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1267K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1267K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1300K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1300					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCCGACGACGAGACCGTCAA	0.632000			"""F, N, Mis"""		NSCLC								12	72					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897881	130897881	+	Silent	SNP	G	G	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr2:130897881G>T	ENST00000392984.3	-	4	1796	c.1053C>A	c.(1051-1053)ggC>ggA	p.G351G	CCDC74B_ENST00000409943.3_Silent_p.G183G|CCDC74B_ENST00000310463.6_Silent_p.G249G			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	249										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CCATCTGCCTGCCCTGGTGCT	0.617000													17	160					4.75885e-15	5.72441e-15	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121651531	121651531	+	Silent	SNP	C	C	T	rs143422308		TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr7:121651531C>T	ENST00000393386.2	+	12	2842	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	811					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAATCCATCCTGTCTTCCTA	0.458000													29	198					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48941629	48941629	+	Splice_Site	SNP	G	G	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr13:48941629G>T	ENST00000267163.4	+	10	1077		c.e10-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCTTTCAAGGTTGAAAATC	0.284000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			10	38					2.74318e-10	3.20682e-10	1	1	0
KCNK15	60598	broad.mit.edu	37	20	43379262	43379262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr20:43379262G>T	ENST00000372861.3	+	2	907	c.776G>T	c.(775-777)cGc>cTc	p.R259L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	259						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CGCGCTGCCCGCACCCCCAgc	0.751000													9	22					2.17888e-05	2.31855e-05	1	1	0
PLXNA3	55558	broad.mit.edu	37	X	153698358	153698358	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chrX:153698358C>T	ENST00000369682.3	+	29	5009	c.4834C>T	c.(4834-4836)Cgc>Tgc	p.R1612C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1612					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					TGATAGCCTCCGCTCACGGGC	0.637000													16	142					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107834438	107834438	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chrX:107834438C>A	ENST00000328300.6	+	20	1560	c.1316C>A	c.(1315-1317)cCt>cAt	p.P439H	COL4A5_ENST00000361603.2_Missense_Mutation_p.P439H	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	439	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCTGGCCCTGCTGGCCCT	0.463000									Alport syndrome with Diffuse Leiomyomatosis				12	142					1.08611e-07	1.18614e-07	1	1	0
BDP1	55814	broad.mit.edu	37	5	70805668	70805668	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr5:70805668G>C	ENST00000358731.4	+	17	3012	c.2749G>C	c.(2749-2751)Gag>Cag	p.E917Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	917	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGACGCCAGAGGTGATTGA	0.448000													7	113					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1465425	1465425	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr19:1465425G>T	ENST00000535453.1	+	14	3838	c.2125G>T	c.(2125-2127)Gtg>Ttg	p.V709L	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.V435L|APC2_ENST00000233607.2_Missense_Mutation_p.V709L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	709					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCACCGCCGTGTCCCCAGG	0.731000													3	3					6.4e-05	6.72405e-05	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100830002	100830002	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr8:100830002A>G	ENST00000358544.2	+	45	8518	c.8407A>G	c.(8407-8409)Aaa>Gaa	p.K2803E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.K2778E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2803					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGGAATCCAAAGCCCCTGA	0.413000													9	124					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522000		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)			12	19					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr2:89083951delA	ENST00000393525.3	+	0	576																											CTTTTTTTTCAGTGTATTTCT	0.348													2	4	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26422627	26422628	+	RNA	INS	-	-	A	rs3734537	by1000genomes	TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr6:26422627_26422628insA	ENST00000466808.2	+	0	79																											gcaaattttccaaaaaaattaa	0.292													2	4	---	---	---	---					
TMEM63B	55362	broad.mit.edu	37	6	44117984	44117991	+	Frame_Shift_Del	DEL	TGCACAAG	TGCACAAG	-			TCGA-55-A48Z-01A-12D-A24P-08	TCGA-55-A48Z-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6252f746-7666-4054-9450-40dbb54ef773	b70c28f4-afaa-4a3f-9698-b941200e9c86	g.chr6:44117984_44117991delTGCACAAG	ENST00000259746.9	+	17	1727_1734	c.1544_1551delTGCACAAG	c.(1543-1551)afs	p.MHK515fs	TMEM63B_ENST00000323267.6_Frame_Shift_Del_p.MHK515fs			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	515						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGGACAACCATGCACAAGTGCTACACTT	0.596													17	50	---	---	---	---					
