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
VPS13D	55187	broad.mit.edu	37	1	12331156	12331156	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:12331156A>G	ENST00000358136.3	+	17	2208	c.2078A>G	c.(2077-2079)gAt>gGt	p.D693G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	693					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAACTCTTGATCGTTTGCTA	0.468													27	53	---	---	---	---
F3	2152	broad.mit.edu	37	1	94996023	94996023	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:94996023A>G	ENST00000334047.7	-	6	1044	c.881T>C	c.(880-882)gTt>gCt	p.V294A	F3_ENST00000370207.4_3'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	294					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCTTTATGAAACATTCAGTGG	0.433													3	85	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41266112	41266112	+	Missense_Mutation	SNP	T	T	G	rs121913416		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr3:41266112T>G	ENST00000349496.5	+	3	389	c.109T>G	c.(109-111)Tct>Gct	p.S37A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37A(62)|p.A5_A80del(53)|p.S37P(21)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.I35_S37>T(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S37T(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGAATCCATTCTGGTGCCAC	0.498	S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	46	---	---	---	---
TIFAB	497189	broad.mit.edu	37	5	134785319	134785319	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr5:134785319C>T	ENST00000537858.1	-	2	511	c.311G>A	c.(310-312)aGg>aAg	p.R104K		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	104										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAGGAGACCCTGTTGACGGT	0.587													12	114	---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11191315	11191315	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr6:11191315T>C	ENST00000379446.5	-	5	953	c.787A>G	c.(787-789)Att>Gtt	p.I263V	NEDD9_ENST00000504387.1_Missense_Mutation_p.I263V|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	263					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTTGGAGGAATGTCATAAACC	0.552													3	76	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130191138	130191138	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr9:130191138C>T	ENST00000342483.5	+	2	450	c.44C>T	c.(43-45)cCc>cTc	p.P15L	ZNF79_ENST00000543471.1_5'UTR	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCTGCCCTTCCCCAAGAGGAA	0.478													5	17	---	---	---	---
WDR37	22884	broad.mit.edu	37	10	1142152	1142152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:1142152A>G	ENST00000358220.1	+	9	836	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R|WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	231										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TACGCGGTGCAGCTGCCGACA	0.488													8	66	---	---	---	---
RASSF7	8045	broad.mit.edu	37	11	562264	562264	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:562264G>A	ENST00000397583.3	+	3	743	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K|RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	104					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCACCCCCGGAACGCTGCCT	0.667													5	49	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819285	53819285	+	Silent	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr12:53819285A>G	ENST00000257863.4	+	5	629	c.549A>G	c.(547-549)ccA>ccG	p.P183P	AMHR2_ENST00000379791.3_Silent_p.P183P|AMHR2_ENST00000550311.1_Silent_p.P183P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	183					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGCCAGTGCCAGAGCCAAGGC	0.592													3	80	---	---	---	---
SSTR1	6751	broad.mit.edu	37	14	38679035	38679035	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr14:38679035T>A	ENST00000267377.2	+	3	1058	c.441T>A	c.(439-441)tgT>tgA	p.C147*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	147					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCATCTACTGTCTGACTGTGC	0.647													6	160	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33928661	33928661	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr15:33928661G>T	ENST00000389232.4	+	27	3536	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1156	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAACCTGGATGATGCTTCAAT	0.483													4	145	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7806622	7806622	+	Silent	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:7806622C>T	ENST00000380358.4	+	23	3706	c.3705C>T	c.(3703-3705)gcC>gcT	p.A1235A	CHD3_ENST00000330494.7_Silent_p.A1176A|CHD3_ENST00000358181.4_Silent_p.A1176A	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1176					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTGGCCAGGCCAACAAAGTGA	0.577													6	62	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15971376	15971376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:15971376G>A	ENST00000268712.3	-	32	4830	c.4573C>T	c.(4573-4575)Cag>Tag	p.Q1525*	NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1525	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCCCTCTGGGTAGGGGTC	0.493													6	19	---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42458366	42458366	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:42458366C>A	ENST00000262407.5	-	13	1305	c.1274G>T	c.(1273-1275)gGt>gTt	p.G425V	ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	425					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CTCACTCTGACCCAGGAACAC	0.612													15	32	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44145009	44145009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:44145009C>A	ENST00000262419.6	-	5	2028	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E520*	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	520						MLL1 complex	protein binding										CCATGGTTTTCCAATGGCTGA	0.413													4	36	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63200388	63200388	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:63200388C>T	ENST00000449996.3	+	15	1235	c.1163C>T	c.(1162-1164)gCa>gTa	p.A388V	RGS9_ENST00000443584.3_Missense_Mutation_p.A388V|RGS9_ENST00000262406.9_Missense_Mutation_p.A391V	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	391	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CTGGACGCCGCACAAACCCAC	0.557													4	44	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66267073	66267073	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:66267073C>T	ENST00000327268.4	-	6	1392	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	410						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	ACGACATCATCCTCAGCAAGC	0.468													8	97	---	---	---	---
OTOP2	92736	broad.mit.edu	37	17	72926528	72926528	+	Silent	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:72926528T>C	ENST00000331427.4	+	6	890	c.798T>C	c.(796-798)ggT>ggC	p.G266G	OTOP2_ENST00000580223.1_Silent_p.G266G	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	266						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAATGTGGGTAGATTCCTGG	0.572													76	169	---	---	---	---
RDH8	50700	broad.mit.edu	37	19	10131942	10131942	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:10131942T>C	ENST00000591589.1	+	5	797	c.608T>C	c.(607-609)gTg>gCg	p.V203A	RDH8_ENST00000171214.1_Missense_Mutation_p.V183A			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	183					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ATCTCCCTGGTGGAGCCAGGC	0.532													4	50	---	---	---	---
PRKACA	5566	broad.mit.edu	37	19	14208444	14208444	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:14208444A>C	ENST00000308677.4	-	7	785	c.589T>G	c.(589-591)Tgg>Ggg	p.W197G	PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	197	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CACAAGGTCCAAGTGCGGCCC	0.642													7	39	---	---	---	---
ANKLE1	126549	broad.mit.edu	37	19	17397230	17397230	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:17397230G>A	ENST00000394458.3	+	9	1993	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	573						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCACTGCTATGGAGTGGTGGC	0.642													3	52	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58470533	58470533	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr20:58470533T>C	ENST00000357552.3	-	20	1849	c.1624A>G	c.(1624-1626)Aga>Gga	p.R542G	SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	542					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTGATGATCTAGATTTCAGT	0.318													16	46	---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30185114	30185114	+	Missense_Mutation	SNP	C	C	T	rs139016848	by1000genomes	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr22:30185114C>T	ENST00000397771.2	-	21	2339	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H|ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGTTGTCTCGCGGCTCTGCCC	0.627													12	328	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720833	89720833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:89720833delA	ENST00000371953.3	+	8	2341	c.984delA	c.(982-984)gcafs	p.A328fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	328	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACAAAGCAAATAAAGACA	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			21	74	---	---	---	---
HBG2	3048	broad.mit.edu	37	11	5275612	5275612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:5275612delG	ENST00000380259.2	-	7	1465	c.225delC	c.(223-225)gccfs	p.A75fs	HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs|HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTTTATGGCATCTCCCA	0.527													11	217	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44966780	44966783	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:44966780_44966783delAAGT	ENST00000377967.4	+	27	4045_4046	c.4004_4005delAAGT	c.(4003-4005)gaa>g	p.E1335fs	KDM6A_ENST00000382899.4_Splice_Site_p.E1342fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Splice_Site_p.E1256fs|KDM6A_ENST00000536777.1_Splice_Site_p.E1290fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1335					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCATTTGTGAAGTAAGTAATTGT	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								12	42	---	---	---	---
