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
MACF1	23499	broad.mit.edu	37	1	39798764	39798764	+	Silent	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr1:39798764T>C	ENST00000564288.1	+	37	7281	c.6504T>C	c.(6502-6504)ttT>ttC	p.F2168F	MACF1_ENST00000567887.1_Silent_p.F2205F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.F608F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.F2173F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2173					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACTTCCTTTACATGTCAGA	0.403													15	38	---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551962	165551962	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr2:165551962G>A	ENST00000375458.2	-	11	2161	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	COBLL1_ENST00000409184.3_Missense_Mutation_p.S685L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S752L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S685L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S723L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	723										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGAATCTTGTGAACTTAAGCA	0.368													31	81	---	---	---	---
CYP27A1	1593	broad.mit.edu	37	2	219677083	219677083	+	Silent	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr2:219677083G>A	ENST00000258415.4	+	3	1012	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	195					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGCGGGCAGAGAGTGCTTCGG	0.557													21	97	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	A	rs121913416		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:41266101C>A	ENST00000349496.5	+	3	378	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		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.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(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.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(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)	TACCTGGACTCTGGAATCCAT	0.488	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				9	39	---	---	---	---
TAGLN3	29114	broad.mit.edu	37	3	111719684	111719684	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:111719684G>C	ENST00000393917.2	+	3	798	c.246G>C	c.(244-246)gaG>gaC	p.E82D	TAGLN3_ENST00000455401.2_Missense_Mutation_p.E82D|TAGLN3_ENST00000478951.1_Missense_Mutation_p.E82D|TAGLN3_ENST00000486460.1_5'UTR|TAGLN3_ENST00000273368.4_Missense_Mutation_p.E82D	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	82	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						AGATCTCAGAGTCAAAGATGG	0.478													4	243	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124997998	124997998	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:124997998G>T	ENST00000360647.4	-	6	1038	c.553C>A	c.(553-555)Cac>Aac	p.H185N	ZNF148_ENST00000485866.1_Missense_Mutation_p.H185N|ZNF148_ENST00000492394.1_Missense_Mutation_p.H185N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H185N|SLC12A8_ENST00000423114.2_Silent_p.I8I|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	185					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTCTGTAAGTGATAGTTCGTT	0.358													40	57	---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12586450	12586450	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:12586450C>A	ENST00000398246.3	-	10	2039	c.1970G>T	c.(1969-1971)gGa>gTa	p.G657V	LONRF1_ENST00000533751.1_Missense_Mutation_p.G300V|LONRF1_ENST00000525024.1_Missense_Mutation_p.G83V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	657	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AGTGCAATATCCATCTTTCAT	0.393													26	46	---	---	---	---
RMDN1	51115	broad.mit.edu	37	8	87487083	87487083	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:87487083T>C	ENST00000406452.3	-	9	1019	c.860A>G	c.(859-861)aAg>aGg	p.K287R	RMDN1_ENST00000519966.1_Missense_Mutation_p.K244R|RMDN1_ENST00000430676.2_Missense_Mutation_p.K257R|RMDN1_ENST00000523911.1_Missense_Mutation_p.K230R	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		TGGATAGTCCTTGGCTTTCAT	0.383													49	96	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106802875	106802875	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802875C>A	ENST00000369701.3	+	5	1244	c.1017C>A	c.(1015-1017)aaC>aaA	p.N339K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	339						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCACACCCAACAGGTTTTATT	0.433													5	71	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106802876	106802876	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802876A>G	ENST00000369701.3	+	5	1245	c.1018A>G	c.(1018-1020)Agg>Ggg	p.R340G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	340						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CACACCCAACAGGTTTTATTG	0.433													6	68	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106802882	106802882	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802882T>A	ENST00000369701.3	+	5	1251	c.1024T>A	c.(1024-1026)Tat>Aat	p.Y342N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	342						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAACAGGTTTTATTGGTAAGC	0.438													7	69	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1023628	1023628	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:1023628G>A	ENST00000421673.2	-	26	3457	c.3407C>T	c.(3406-3408)aCg>aTg	p.T1136M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1136					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCGTGTGCGTGTTGTAGAA	0.662													4	25	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108056136	108056136	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:108056136A>G	ENST00000278612.8	-	9	917	c.812T>C	c.(811-813)tTa>tCa	p.L271S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	271	Interaction with MIZF.|Mediates transcriptional activation.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTACCTAGTTAAAAATTTATT	0.264													6	16	---	---	---	---
TAS2R19	259294	broad.mit.edu	37	12	11175140	11175140	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:11175140T>C	ENST00000390673.2	-	1	79	c.31A>G	c.(31-33)Att>Gtt	p.I11V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	11					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTACCAGAATTGATGAAATG	0.378													4	26	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121416600	121416600	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:121416600C>T	ENST00000257555.6	+	1	255	c.29C>T	c.(28-30)aCg>aTg	p.T10M	HNF1A_ENST00000400024.2_Missense_Mutation_p.T10M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.T10M|HNF1A_ENST00000402929.1_Missense_Mutation_p.T10M|HNF1A_ENST00000538626.1_Missense_Mutation_p.T10M			P20823	HNF1A_HUMAN	HNF1 homeobox A	10	Dimerization.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q9fs*11(1)|p.Q7_L12del(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGCTGCAGACGGAGCTCCTG	0.692									Hepatic Adenoma, Familial Clustering of				12	62	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132445686	132445686	+	Silent	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:132445686C>T	ENST00000333577.4	+	2	631	c.522C>T	c.(520-522)agC>agT	p.S174S	EP400_ENST00000389561.2_Silent_p.S174S|EP400_ENST00000330386.6_Silent_p.S174S|EP400_ENST00000332482.4_Silent_p.S174S|EP400_ENST00000389562.2_Silent_p.S174S			Q96L91	EP400_HUMAN	E1A binding protein p400	174					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGATGCCAGCGTGCTGGTGA	0.667													5	18	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72300187	72300187	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr15:72300187T>C	ENST00000356056.5	-	8	1832	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V	MYO9A_ENST00000444904.1_Missense_Mutation_p.I435V|MYO9A_ENST00000564571.1_Missense_Mutation_p.I454V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.I454V|MYO9A_ENST00000566885.1_Missense_Mutation_p.I49V|RP11-390D11.1_ENST00000568391.1_RNA	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	454	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAGACAATAGGCAGAACT	0.323													18	35	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891286	29891286	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr16:29891286C>T	ENST00000308713.5	-	9	1999	c.1472G>A	c.(1471-1473)tGc>tAc	p.C491Y	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.C421Y|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.C447Y|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.C377Y	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	491	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGGGAGGCACGAGAAGGT	0.617													15	93	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			37	88	---	---	---	---
UBALD2	283991	broad.mit.edu	37	17	74266281	74266281	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:74266281A>G	ENST00000327490.6	+	3	494	c.190A>G	c.(190-192)Act>Gct	p.T64A	UBALD2_ENST00000589240.1_Missense_Mutation_p.T4A	NM_182565.3	NP_872371.1			UBA-like domain containing 2																		GCAGATGTGCACTCCCAGCAA	0.677													4	19	---	---	---	---
SLC17A7	57030	broad.mit.edu	37	19	49935776	49935776	+	Splice_Site	SNP	C	C	T	rs35127332		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr19:49935776C>T	ENST00000221485.3	-	9	1321	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	SLC17A7_ENST00000543531.1_Splice_Site_p.G372S|SLC17A7_ENST00000600601.1_Splice_Site_p.G317S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	384					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCCCACTCACCTCCGCAGTTC	0.642													3	8	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37605187	37605187	+	Silent	SNP	G	G	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr21:37605187G>C	ENST00000399151.3	+	15	2521	c.2436G>C	c.(2434-2436)gtG>gtC	p.V812V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	812					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAGAACGTGGCCATTTCCA	0.498													16	116	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187525553	187525554	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr4:187525553_187525554delTC	ENST00000441802.2	-	18	10734_10735	c.10525_10526delGA	c.(10525-10527)gatfs	p.D3509fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3509	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAGTAATGATCTTTCTCCTTC	0.431										HNSCC(5;0.00058)			9	36	---	---	---	---
OR2V2	285659	broad.mit.edu	37	5	180582423	180582423	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr5:180582423delA	ENST00000328275.1	+	1	481	c.481delA	c.(481-483)atgfs	p.M161fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGATCCAGATGGTGGTAGT	0.488													39	126	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34685513	34685514	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr19:34685513_34685514insT	ENST00000544216.3	+	2	329_330	c.252_253insT	c.(253-255)tgtfs	p.C85fs	LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.C85fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.C85fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	85					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CAAAACCACAGTGTTCTTTGCC	0.431													14	117	---	---	---	---
