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
FRG1B	0	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													5	160					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991392	72991392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr16:72991392G>A	ENST00000268489.5	-	2	3325	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	885					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCATGAACTGGGCGTCCGAG	0.597000													27	62					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049592	11049592	+	RNA	SNP	C	C	T	rs3906134		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11049592C>T	ENST00000470054.1	-	0	516									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCGGGCTGTCGCACACTGCA	0.388000													20	184					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15103733	15103733	+	Silent	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:15103733A>G	ENST00000378217.3	+	5	520	c.333A>G	c.(331-333)ttA>ttG	p.L111L	OLAH_ENST00000378228.3_Silent_p.L58L	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	58					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGCACTCCTTAAGGCTTCCTG	0.428000													14	39					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64900945	64900945	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:64900945A>C	ENST00000526060.1	-	2	320	c.128T>G	c.(127-129)aTg>aGg	p.M43R	SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R|SYVN1_ENST00000377190.3_Missense_Mutation_p.M43R			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	43					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCACTGCCATGCTGGGGCT	0.632000													7	110					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118790285	118790285	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:118790285T>C	ENST00000368491.3	-	12	2825	c.2204A>G	c.(2203-2205)cAg>cGg	p.Q735R	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	735						centrosome											CTGAGCACGCTGATTAAGAAT	0.383000													13	72					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645596	45645596	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645596C>T	ENST00000303230.4	-	2	597	c.540G>A	c.(538-540)gtG>gtA	p.V180V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	180						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTGATGCCACATTGAAAA	0.373000													18	62					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109286790	109286790	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:109286790G>A	ENST00000228476.3	+	6	689	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	162					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TTCTTCCAGCGGAAAGTGGAG	0.562000													14	35					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34954743	34954743	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:34954743C>G	ENST00000382021.2	+	13	1882	c.1655C>G	c.(1654-1656)gCa>gGa	p.A552G	DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G|DNAJC21_ENST00000342382.4_Missense_Mutation_p.A507G	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	507					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACAGGTCATGCAAGAGCACCT	0.408000													12	75					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		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.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(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.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(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.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(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)	TGGTGCCACTACCACAGCTCC	0.507000	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				4	40					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9776015	9776015	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:9776015A>G	ENST00000383829.2	+	2	595	c.191A>G	c.(190-192)aAg>aGg	p.K64R	BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R|BRPF1_ENST00000457855.1_Missense_Mutation_p.K64R|BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	64	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACAAGAAAAAGGGGCGCCAG	0.572000													3	172					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039298	11039298	+	RNA	SNP	C	C	T	rs3888470		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11039298C>T	ENST00000470054.1	-	0	905									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGTAACGACTTCAATGTTT	0.388000													12	252					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392753	89392753	+	RNA	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453000													3	67					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													4	48					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29632680	29632680	+	Silent	SNP	G	G	A	rs4892355		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29632680G>A	ENST00000278882.3	+	8	875	c.495G>A	c.(493-495)aaG>aaA	p.K165K	FRG1B_ENST00000358464.4_Silent_p.K165K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTCTTAAAAAGGCTCAGAAAG	0.313000													14	546					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	125					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	58					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645595	45645595	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645595C>A	ENST00000303230.4	-	2	598	c.541G>T	c.(541-543)Gca>Tca	p.A181S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	181						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTATCTGATGCCACATTGAAA	0.373000													19	61					1.90627e-21	2.09689e-21	1	1	0
FRG1B	0	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													10	150					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38047428	38047428	+	Missense_Mutation	SNP	T	T	C	rs142814627	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:38047428T>C	ENST00000283713.6	+	17	2362	c.2096T>C	c.(2095-2097)aTt>aCt	p.I699T	VILL_ENST00000465644.1_Missense_Mutation_p.I417T|VILL_ENST00000383759.2_Missense_Mutation_p.I699T			O15195	VILL_HUMAN	villin-like	699					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCACCTTCATTGGATGGTTC	0.612000													47	88					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115109860	115109860	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:115109860T>C	ENST00000349155.2	-	7	2921	c.1958A>G	c.(1957-1959)aAa>aGa	p.K653R	TBX3_ENST00000257566.3_Missense_Mutation_p.K673R	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	673	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCGACTTTGCCGTCCAG	0.716000													3	4					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151067883	151067883	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:151067883A>G	ENST00000474524.1	+	15	2220	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V	MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.I588V|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	728					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCGCACAATCCTTCTCTA	0.423000													88	205					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210654289	210654289	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:210654289G>A	ENST00000439458.1	+	6	838	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R253Q	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	253						integral to membrane		p.R253Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGTCAAAGCCGGACCTGTGAA	0.368000													11	117					0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8321856	8321856	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:8321856C>G	ENST00000558331.1	+	9	942	c.483C>G	c.(481-483)caC>caG	p.H161Q	CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q|CERS4_ENST00000251363.5_Missense_Mutation_p.H212Q|CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q			Q9HA82	CERS4_HUMAN	ceramide synthase 4	212	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGGTGATACACCACTTCGTGG	0.567000													14	423					0	0	1	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972797	110972797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:110972797C>T	ENST00000394607.3	-	5	658	c.495G>A	c.(493-495)tgG>tgA	p.W165*	ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165*			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	165					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TAGTCATGAACCAACCTCCCC	0.522000													18	54					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46261197	46261197	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:46261197C>T	ENST00000336378.4	+	19	1926	c.1808C>T	c.(1807-1809)gCa>gTa	p.A603V	FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	603										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGAGAAAGCAAAAGCCTCC	0.443000													15	92					0	0	1	0	0
IL4	3565	broad.mit.edu	37	5	132010172	132010172	+	Missense_Mutation	SNP	G	G	A	rs56279116		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:132010172G>A	ENST00000231449.2	+	2	222	c.157G>A	c.(157-159)Gta>Ata	p.V53I	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Intron	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	53					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CGAGTTGACCGTAACAGACAT	0.498000													3	101					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147781990	147781990	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:147781990G>A	ENST00000340253.5	+	5	674	c.506G>A	c.(505-507)cGt>cAt	p.R169H	FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H|FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	169						cytoplasm|nucleus		p.R169H(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAATTTCGTAATCGTAAT	0.353000													4	78					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389968	129389968	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:129389968T>C	ENST00000393238.3	-	4	1056	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	239						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGGATCTTCTGCTGCAGGTG	0.527000													31	178					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186710	213186710	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:213186710G>A	ENST00000366962.3	-	2	264	c.110C>T	c.(109-111)aCa>aTa	p.T37I	ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	37										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTCCCACGGTGTAGTCCAGTC	0.458000													4	141					0	0	1	0	0
NECAB3	63941	broad.mit.edu	37	20	32248142	32248142	+	Silent	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:32248142C>A	ENST00000246190.6	-	6	502	c.447G>T	c.(445-447)acG>acT	p.T149T	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Silent_p.T149T	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	149					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						GCTGGCTCACCGTCTCCCGCA	0.647000													3	67					0.150653	0.155361	1	1	0
IL7R	3575	broad.mit.edu	37	5	35876450	35876450	+	Silent	SNP	G	G	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:35876450G>C	ENST00000303115.3	+	8	1371	c.1242G>C	c.(1240-1242)acG>acC	p.T414T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	414			T -> M (in dbSNP:rs2229232).		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)			CAAACAGCACGCTGCCCCCTC	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						3	69					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487419	131487419	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:131487419C>T	ENST00000309926.4	+	1	777	c.695C>T	c.(694-696)aCa>aTa	p.T232I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TTCCTCTGCACAGCTCTCATT	0.572000													18	142					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40744879	40744879	+	Splice_Site	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:40744879G>A	ENST00000392038.2	-	8	939	c.639_splice	c.e8-1	p.A214_splice	AKT2_ENST00000424901.1_Splice_Site_p.A214_splice|AKT2_ENST00000579047.1_Splice_Site_p.A152_splice|AKT2_ENST00000311278.6_Splice_Site_p.A214_splice	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	214	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ATACTTCAGCGCCTGGGGGAT	0.642000			A		"""ovarian, pancreatic """								4	105					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													5	131					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54440053	54440053	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:54440053G>A	ENST00000263925.7	-	2	431	c.117C>T	c.(115-117)ctC>ctT	p.L39L	FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	39						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTGGCAGATGAGGTCATCAT	0.572000													17	35					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415297	57415297	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:57415297G>T	ENST00000313949.7	+	1	525	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCGCCCTTGCCACCTCCAA	0.697000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	45					1	1	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCCCAGGACGCGCCTGGGG	0.537000													27	74					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25820147	25820147	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:25820147C>T	ENST00000428257.1	-	2	271	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.R55Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	55	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTTTCCAATCCGGATGGATCT	0.338000													31	72					0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55746969	55746969	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:55746969G>T	ENST00000349456.4	+	1	180	c.32G>T	c.(31-33)tGg>tTg	p.W11L	CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L|CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L|CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	11										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGTGGAGTGGGTAGTGGAG	0.612000													43	94					1.19403e-26	1.3357e-26	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11058316	11058316	+	RNA	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11058316G>T	ENST00000470054.1	-	0	331									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACAAAATGCACATCGCTG	0.388000													8	211					0.00448238	0.00469583	1	1	0
RAB37	326624	broad.mit.edu	37	17	72736974	72736974	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr17:72736974T>C	ENST00000392610.1	+	2	202	c.161T>C	c.(160-162)tTc>tCc	p.F54S	RAB37_ENST00000392612.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392613.5_Missense_Mutation_p.F54S			Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	54					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GACGGGGCCTTCCTGTCCGGA	0.577000													23	184					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5493806	5493806	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:5493806A>C	ENST00000355029.4	+	4	411	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NET1_ENST00000380359.3_Missense_Mutation_p.K36T|NET1_ENST00000542715.1_5'UTR	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	90					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAAGCAATAAAAGAGTTCGA	0.388000													5	125					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564307	33564307	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:33564307G>A	ENST00000321505.4	+	1	487	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R					KIAA1549-like																		AGTGCACAATGGGGTGTCTTT	0.522000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	23					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365112	120365112	+	Splice_Site	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:120365112A>G	ENST00000283871.5	-	9	1109		c.e9+1			NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase						L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGAAGATTTACCAATTGGTC	0.453000													23	48					0	0	1	0	0
ULK3	25989	broad.mit.edu	37	15	75134439	75134439	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr15:75134439G>A	ENST00000440863.2	-	3	432	c.341C>T	c.(340-342)gCg>gTg	p.A114V	ULK3_ENST00000569437.1_Missense_Mutation_p.A114V|ULK3_ENST00000568667.1_Missense_Mutation_p.A125V	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	114	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GAAGACACGCGCCACCTTCTC	0.572000													61	174					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998994	144998994	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:144998994C>T	ENST00000322810.4	-	31	5683	c.5514G>A	c.(5512-5514)gcG>gcA	p.A1838A	PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000354589.3_Silent_p.A1701A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000356346.3_Silent_p.A1687A|PLEC_ENST00000357649.2_Silent_p.A1705A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1838	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTGCCTTCCGCCAGCTGCC	0.746000													3	8					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34839640	34839640	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:34839640A>C	ENST00000192788.5	+	20	4306	c.4135A>C	c.(4135-4137)Aag>Cag	p.K1379Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1379										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TAAAAGTGAGAAGAGACAGCC	0.468000													5	40					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916229	86916229	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:86916229G>A	ENST00000395184.1	+	9	1888	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	ARHGAP24_ENST00000395183.2_Silent_p.T379T|ARHGAP24_ENST00000264343.4_Silent_p.T381T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	474					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.T474T(1)|p.T381T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAATGGGCACGCACAGTGTAC	0.517000													4	105					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95888909	95888909	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:95888909T>C	ENST00000323666.5	+	6	996	c.767T>C	c.(766-768)aTa>aCa	p.I256T	METAP2_ENST00000261220.9_Missense_Mutation_p.I233T|METAP2_ENST00000551840.1_Missense_Mutation_p.I255T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T|METAP2_ENST00000546753.1_Missense_Mutation_p.I233T	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	256					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GGAACACATATAAGTGGTAAA	0.373000													17	48					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25259959	25259959	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:25259959C>A	ENST00000354454.3	+	20	2060	c.1231C>A	c.(1231-1233)Cca>Aca	p.P411T	LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	467					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GAAAAATAATCCATCAAAGTG	0.373000													13	22					2.31682e-05	2.50673e-05	1	1	0
SLC26A6	65010	broad.mit.edu	37	3	48666102	48666102	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:48666102C>T	ENST00000358747.6	-	14	1832	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCAAAGTACACGGTGGCCGAG	0.612000													3	68					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107954878	107954878	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:107954878G>A	ENST00000317357.5	+	6	1489	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	277							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGGCTGTGCAGCACATTACAC	0.488000													3	85					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155153	12155153	+	Silent	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:12155153G>T	ENST00000602107.1	-	5	1203	c.1204C>A	c.(1204-1206)Cga>Aga	p.R402R	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Silent_p.R355R|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCATGTATTCGAAGATCCTTG	0.383000													3	51					1	1	1	1	0
PCF11	51585	broad.mit.edu	37	11	82892950	82892950	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:82892950T>G	ENST00000298281.4	+	13	4674	c.4222T>G	c.(4222-4224)Ttt>Gtt	p.F1408V	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1408					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGAGCCAGTTTTTTGAAAA	0.388000													9	18					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896870	227896870	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:227896870G>A	ENST00000396625.3	-	39	3907	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1234	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCTGGGGGTCCTGGGGGA	0.507000													4	104					0	0	1	0	0
FSHR	0	broad.mit.edu	37	2	49190030	49190030	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:49190030A>G	ENST00000406846.2	-	10	2049	c.1930T>C	c.(1930-1932)Tgt>Cgt	p.C644R	FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	644					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TAGCAGCCACACTTGCTCAGC	0.478000									Gonadal Dysgenesis, 46 XX				9	45					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5220066	5220066	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:5220066G>A	ENST00000372412.4	-	22	3885	c.3652C>T	c.(3652-3654)Cca>Tca	p.P1218S	PTPRS_ENST00000587303.1_Missense_Mutation_p.P1217S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1217					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AACGTGGGTGGCAGCACAGAG	0.647000													4	94					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380382	147380382	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:147380382C>T	ENST00000240986.4	+	2	353	c.300C>T	c.(298-300)gtC>gtT	p.V100V	GJA8_ENST00000369235.1_Silent_p.V100V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	100					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCACTACGTCCGCATGGAGG	0.657000													17	66					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991392	72991392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr16:72991392G>A	ENST00000268489.5	-	2	3325	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	885					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCATGAACTGGGCGTCCGAG	0.597000													27	62					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15103733	15103733	+	Silent	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr10:15103733A>G	ENST00000378217.3	+	5	520	c.333A>G	c.(331-333)ttA>ttG	p.L111L	OLAH_ENST00000378228.3_Silent_p.L58L	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	58					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGCACTCCTTAAGGCTTCCTG	0.428000													14	39					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64900945	64900945	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr11:64900945A>C	ENST00000526060.1	-	2	320	c.128T>G	c.(127-129)aTg>aGg	p.M43R	SYVN1_ENST00000377190.3_Missense_Mutation_p.M43R|SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	43					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCACTGCCATGCTGGGGCT	0.632000													7	110					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48666102	48666102	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:48666102C>T	ENST00000358747.6	-	14	1832	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCAAAGTACACGGTGGCCGAG	0.612000													3	68					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645596	45645596	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:45645596C>T	ENST00000303230.4	-	2	597	c.540G>A	c.(538-540)gtG>gtA	p.V180V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	180						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTGATGCCACATTGAAAA	0.373000													18	62					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109286790	109286790	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:109286790G>A	ENST00000228476.3	+	6	689	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	162					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TTCTTCCAGCGGAAAGTGGAG	0.562000													14	35					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95888909	95888909	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:95888909T>C	ENST00000323666.5	+	6	996	c.767T>C	c.(766-768)aTa>aCa	p.I256T	METAP2_ENST00000546753.1_Missense_Mutation_p.I233T|METAP2_ENST00000551840.1_Missense_Mutation_p.I255T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T|METAP2_ENST00000261220.9_Missense_Mutation_p.I233T	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	256					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GGAACACATATAAGTGGTAAA	0.373000													17	48					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34954743	34954743	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:34954743C>G	ENST00000382021.2	+	13	1882	c.1655C>G	c.(1654-1656)gCa>gGa	p.A552G	DNAJC21_ENST00000342382.4_Missense_Mutation_p.A507G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	507					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACAGGTCATGCAAGAGCACCT	0.408000													12	75					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		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.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(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.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(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.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(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)	TGGTGCCACTACCACAGCTCC	0.507000	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				4	40					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9776015	9776015	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:9776015A>G	ENST00000383829.2	+	2	595	c.191A>G	c.(190-192)aAg>aGg	p.K64R	BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R|BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000457855.1_Missense_Mutation_p.K64R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	64	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACAAGAAAAAGGGGCGCCAG	0.572000													3	172					0	0	1	0	0
NECAB3	63941	broad.mit.edu	37	20	32248142	32248142	+	Silent	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr20:32248142C>A	ENST00000246190.6	-	6	502	c.447G>T	c.(445-447)acG>acT	p.T149T	NECAB3_ENST00000375238.4_Silent_p.T149T|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	149					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						GCTGGCTCACCGTCTCCCGCA	0.647000													3	67					0.150653	0.155675	1	1	0
HCN1	348980	broad.mit.edu	37	5	45645595	45645595	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:45645595C>A	ENST00000303230.4	-	2	598	c.541G>T	c.(541-543)Gca>Tca	p.A181S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	181						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTATCTGATGCCACATTGAAA	0.373000													19	61					1.90627e-21	2.14888e-21	1	1	0
VILL	50853	broad.mit.edu	37	3	38047428	38047428	+	Missense_Mutation	SNP	T	T	C	rs142814627	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:38047428T>C	ENST00000283713.6	+	17	2362	c.2096T>C	c.(2095-2097)aTt>aCt	p.I699T	VILL_ENST00000383759.2_Missense_Mutation_p.I699T|VILL_ENST00000465644.1_Missense_Mutation_p.I417T			O15195	VILL_HUMAN	villin-like	699					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCACCTTCATTGGATGGTTC	0.612000													47	88					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115109860	115109860	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:115109860T>C	ENST00000349155.2	-	7	2921	c.1958A>G	c.(1957-1959)aAa>aGa	p.K653R	TBX3_ENST00000257566.3_Missense_Mutation_p.K673R	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	673	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCGACTTTGCCGTCCAG	0.716000													3	4					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151067883	151067883	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:151067883A>G	ENST00000474524.1	+	15	2220	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.I588V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	728					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCGCACAATCCTTCTCTA	0.423000													88	205					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210654289	210654289	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:210654289G>A	ENST00000439458.1	+	6	838	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R253Q	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	253						integral to membrane		p.R253Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGTCAAAGCCGGACCTGTGAA	0.368000													11	117					0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8321856	8321856	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr19:8321856C>G	ENST00000558331.1	+	9	942	c.483C>G	c.(481-483)caC>caG	p.H161Q	CERS4_ENST00000251363.5_Missense_Mutation_p.H212Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q|CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q			Q9HA82	CERS4_HUMAN	ceramide synthase 4	212	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGGTGATACACCACTTCGTGG	0.567000													14	423					0	0	1	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972797	110972797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr4:110972797C>T	ENST00000394607.3	-	5	658	c.495G>A	c.(493-495)tgG>tgA	p.W165*	ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165*			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	165					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TAGTCATGAACCAACCTCCCC	0.522000													18	54					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46261197	46261197	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr10:46261197C>T	ENST00000336378.4	+	19	1926	c.1808C>T	c.(1807-1809)gCa>gTa	p.A603V	FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V|FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	603										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGAGAAAGCAAAAGCCTCC	0.443000													15	92					0	0	1	0	0
IL4	3565	broad.mit.edu	37	5	132010172	132010172	+	Missense_Mutation	SNP	G	G	A	rs56279116		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:132010172G>A	ENST00000231449.2	+	2	222	c.157G>A	c.(157-159)Gta>Ata	p.V53I	IL4_ENST00000350025.2_Intron|IL4_ENST00000495905.1_3'UTR	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	53					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CGAGTTGACCGTAACAGACAT	0.498000													3	101					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147781990	147781990	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:147781990G>A	ENST00000340253.5	+	5	674	c.506G>A	c.(505-507)cGt>cAt	p.R169H	FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H|FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H|FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	169						cytoplasm|nucleus		p.R169H(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAATTTCGTAATCGTAAT	0.353000													4	78					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389968	129389968	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:129389968T>C	ENST00000393238.3	-	4	1056	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	239						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGGATCTTCTGCTGCAGGTG	0.527000													31	178					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186710	213186710	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:213186710G>A	ENST00000366962.3	-	2	264	c.110C>T	c.(109-111)aCa>aTa	p.T37I	ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	37										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTCCCACGGTGTAGTCCAGTC	0.458000													4	141					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													3	80					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876450	35876450	+	Silent	SNP	G	G	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:35876450G>C	ENST00000303115.3	+	8	1371	c.1242G>C	c.(1240-1242)acG>acC	p.T414T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	414			T -> M (in dbSNP:rs2229232).		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)			CAAACAGCACGCTGCCCCCTC	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						3	69					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487419	131487419	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:131487419C>T	ENST00000309926.4	+	1	777	c.695C>T	c.(694-696)aCa>aTa	p.T232I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TTCCTCTGCACAGCTCTCATT	0.572000													18	142					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40744879	40744879	+	Splice_Site	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr19:40744879G>A	ENST00000392038.2	-	8	939	c.639_splice	c.e8-1	p.A214_splice	AKT2_ENST00000424901.1_Splice_Site_p.A214_splice|AKT2_ENST00000579047.1_Splice_Site_p.A152_splice|AKT2_ENST00000311278.6_Splice_Site_p.A214_splice	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	214	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ATACTTCAGCGCCTGGGGGAT	0.642000			A		"""ovarian, pancreatic """								4	105					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415297	57415297	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr20:57415297G>T	ENST00000313949.7	+	1	525	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCGCCCTTGCCACCTCCAA	0.697000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	45					1	1	1	1	0
LNX1	84708	broad.mit.edu	37	4	54440053	54440053	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr4:54440053G>A	ENST00000263925.7	-	2	431	c.117C>T	c.(115-117)ctC>ctT	p.L39L	FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	39						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTGGCAGATGAGGTCATCAT	0.572000													17	35					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118790285	118790285	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr6:118790285T>C	ENST00000368491.3	-	12	2825	c.2204A>G	c.(2203-2205)cAg>cGg	p.Q735R	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	735						centrosome											CTGAGCACGCTGATTAAGAAT	0.383000													13	72					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCCCAGGACGCGCCTGGGG	0.537000													27	74					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25820147	25820147	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:25820147C>T	ENST00000428257.1	-	2	271	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NGLY1_ENST00000280700.5_Missense_Mutation_p.R55Q|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q|NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	55	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTTTCCAATCCGGATGGATCT	0.338000													31	72					0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55746969	55746969	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:55746969G>T	ENST00000349456.4	+	1	180	c.32G>T	c.(31-33)tGg>tTg	p.W11L	CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L|CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L|CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	11										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGTGGAGTGGGTAGTGGAG	0.612000													43	94					1.19403e-26	1.37093e-26	1	1	0
RAB37	326624	broad.mit.edu	37	17	72736974	72736974	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr17:72736974T>C	ENST00000392610.1	+	2	202	c.161T>C	c.(160-162)tTc>tCc	p.F54S	RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000392613.5_Missense_Mutation_p.F54S|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392612.3_Intron			Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	54					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GACGGGGCCTTCCTGTCCGGA	0.577000													23	184					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5493806	5493806	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr10:5493806A>C	ENST00000355029.4	+	4	411	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.K36T	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	90					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAAGCAATAAAAGAGTTCGA	0.388000													5	125					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564307	33564307	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr11:33564307G>A	ENST00000321505.4	+	1	487	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R					KIAA1549-like																		AGTGCACAATGGGGTGTCTTT	0.522000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	23					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365112	120365112	+	Splice_Site	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:120365112A>G	ENST00000283871.5	-	9	1109		c.e9+1			NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase						L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGAAGATTTACCAATTGGTC	0.453000													23	48					0	0	1	0	0
ULK3	25989	broad.mit.edu	37	15	75134439	75134439	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr15:75134439G>A	ENST00000440863.2	-	3	432	c.341C>T	c.(340-342)gCg>gTg	p.A114V	ULK3_ENST00000569437.1_Missense_Mutation_p.A114V|ULK3_ENST00000568667.1_Missense_Mutation_p.A125V	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	114	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GAAGACACGCGCCACCTTCTC	0.572000													61	174					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998994	144998994	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr8:144998994C>T	ENST00000322810.4	-	31	5683	c.5514G>A	c.(5512-5514)gcG>gcA	p.A1838A	PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000354589.3_Silent_p.A1701A|PLEC_ENST00000356346.3_Silent_p.A1687A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000357649.2_Silent_p.A1705A|PLEC_ENST00000527096.1_Silent_p.A1724A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1838	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTGCCTTCCGCCAGCTGCC	0.746000													3	8					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168012	69168012	+	Silent	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:69168012C>A	ENST00000420581.2	-	2	1673	c.1494G>T	c.(1492-1494)cgG>cgT	p.R498R	LMOD3_ENST00000489031.1_Silent_p.R498R|LMOD3_ENST00000475434.1_Silent_p.R498R	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	498						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTTCCGGCATCCGAGATTTGC	0.537000													4	30					0.00909568	0.00972297	1	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34839640	34839640	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr6:34839640A>C	ENST00000192788.5	+	20	4306	c.4135A>C	c.(4135-4137)Aag>Cag	p.K1379Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1379										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TAAAAGTGAGAAGAGACAGCC	0.468000													5	40					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916229	86916229	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr4:86916229G>A	ENST00000395184.1	+	9	1888	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	ARHGAP24_ENST00000264343.4_Silent_p.T381T|ARHGAP24_ENST00000395183.2_Silent_p.T379T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	474					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.T474T(1)|p.T381T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAATGGGCACGCACAGTGTAC	0.517000													4	105					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747813	148747813	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:148747813A>G	ENST00000514349.1	+	5	1390	c.811A>G	c.(811-813)Acc>Gcc	p.T271A	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.T361A			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	361					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACATCCTTACCACAGATTT	0.557000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	207					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25259959	25259959	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:25259959C>A	ENST00000354454.3	+	20	2060	c.1231C>A	c.(1231-1233)Cca>Aca	p.P411T	LRMP_ENST00000547044.1_Missense_Mutation_p.P411T|LRMP_ENST00000548766.1_Missense_Mutation_p.P411T	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	467					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GAAAAATAATCCATCAAAGTG	0.373000													13	22					2.31682e-05	2.56505e-05	1	1	0
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498000													9	616					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107954878	107954878	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr6:107954878G>A	ENST00000317357.5	+	6	1489	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	277							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGGCTGTGCAGCACATTACAC	0.488000													3	85					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155153	12155153	+	Silent	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr19:12155153G>T	ENST00000602107.1	-	5	1203	c.1204C>A	c.(1204-1206)Cga>Aga	p.R402R	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Silent_p.R355R			C9JN71	ZN878_HUMAN	zinc finger protein 878	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCATGTATTCGAAGATCCTTG	0.383000													3	51					1	1	1	1	0
PCF11	51585	broad.mit.edu	37	11	82892950	82892950	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr11:82892950T>G	ENST00000298281.4	+	13	4674	c.4222T>G	c.(4222-4224)Ttt>Gtt	p.F1408V	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1408					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGAGCCAGTTTTTTGAAAA	0.388000													9	18					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896870	227896870	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:227896870G>A	ENST00000396625.3	-	39	3907	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1234	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCTGGGGGTCCTGGGGGA	0.507000													4	104					0	0	1	0	0
FSHR	0	broad.mit.edu	37	2	49190030	49190030	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr2:49190030A>G	ENST00000406846.2	-	10	2049	c.1930T>C	c.(1930-1932)Tgt>Cgt	p.C644R	FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R|FSHR_ENST00000541117.1_Missense_Mutation_p.C380R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	644					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TAGCAGCCACACTTGCTCAGC	0.478000									Gonadal Dysgenesis, 46 XX				9	45					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5220066	5220066	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr19:5220066G>A	ENST00000372412.4	-	22	3885	c.3652C>T	c.(3652-3654)Cca>Tca	p.P1218S	PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1217S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1217					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AACGTGGGTGGCAGCACAGAG	0.647000													4	94					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380382	147380382	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:147380382C>T	ENST00000240986.4	+	2	353	c.300C>T	c.(298-300)gtC>gtT	p.V100V	GJA8_ENST00000369235.1_Silent_p.V100V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	100					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCACTACGTCCGCATGGAGG	0.657000													17	66					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													8	92	---	---	---	---					
PLA2R1	0	broad.mit.edu	37	2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)del	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGGCGCCCCcagcagcagcagc	0.729													2	4	---	---	---	---					
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)afs	p.E823fs	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401													7	127	---	---	---	---					
ASTE1	28990	broad.mit.edu	37	3	130733047	130733047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:130733047delT	ENST00000264992.3	-	6	2335	c.1894delA	c.(1894-1896)ggfs	p.R632fs	ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000328560.8_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.R657fs|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000513801.1_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair		nuclease activity	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCTTCTGCCTTTTTTTTTTT	0.403													10	35	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													7	116	---	---	---	---					
YEATS2	55689	broad.mit.edu	37	3	183479310	183479310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:183479310delT	ENST00000305135.5	+	14	1867	c.1672delT	c.(1672-1674)ttfs	p.F558fs		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	558					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGATTCTTTGTTTGCATCTAT	0.388													8	206	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													9	106	---	---	---	---					
CTC-467M3.1	0	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581													4	7	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49416426	49416440	+	In_Frame_Del	DEL	TGCCAATGTACTCGA	TGCCAATGTACTCGA	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:49416426_49416440delTGCCAATGTACTCGA	ENST00000301067.7	-	51	16270_16284	c.16271_16285delTCGAGTACATTGGCA	c.(16270-16287)acc>a	p.IEYIGT5424del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1)									CGAATGATGGTGCCAATGTACTCGATAACCATTGT	0.553													41	343	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	by1000genomes	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													10	214	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628229_29628230insA	ENST00000278882.3	+	6	611_612	c.231_232insA	c.(229-234)ggaaatfs	p.N78fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351													12	217	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977190	107977191	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chrX:107977190_107977191delAT	ENST00000372129.2	-	1	2460_2461	c.2384_2385delAT	c.(2383-2385)afs	p.N795fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	795	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCCTGAGGATTTCTGGGGTT	0.465													20	101	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	RNA	INS	-	-	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282													3	4	---	---	---	---					
YEATS2	55689	broad.mit.edu	37	3	183479310	183479310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:183479310delT	ENST00000305135.5	+	14	1867	c.1672delT	c.(1672-1674)ttfs	p.F558fs		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	558					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGATTCTTTGTTTGCATCTAT	0.388													8	206	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805698	21805700	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr10:21805698_21805700delGGT	ENST00000449193.2	-	4	3304_3306	c.1052_1054delACC	c.(1051-1056)cgg>c	p.HR351del	SKIDA1_ENST00000444772.3_In_Frame_Del_p.HR272del	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		GGCTGGGCCCggtggtggtggtg	0.690													3	5	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49416426	49416440	+	In_Frame_Del	DEL	TGCCAATGTACTCGA	TGCCAATGTACTCGA	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr12:49416426_49416440delTGCCAATGTACTCGA	ENST00000301067.7	-	51	16270_16284	c.16271_16285delTCGAGTACATTGGCA	c.(16270-16287)acc>a	p.IEYIGT5424del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1)									CGAATGATGGTGCCAATGTACTCGATAACCATTGT	0.553													41	343	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100634394	100634396	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr13:100634394_100634396delGCG	ENST00000376335.3	+	1	369_371	c.76_78delGCG	c.(76-78)del	p.A33del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	33	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTccgccgcggcggcggcgg	0.759													3	3	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977190	107977191	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chrX:107977190_107977191delAT	ENST00000372129.2	-	1	2460_2461	c.2384_2385delAT	c.(2383-2385)afs	p.N795fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	795	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCCTGAGGATTTCTGGGGTT	0.465													20	101	---	---	---	---					
