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
FAM21C	253725	broad.mit.edu	37	10	46248088	46248088	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:46248088G>A	ENST00000336378.4	+	12	1174	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000540872.1_Silent_p.S352S|FAM21C_ENST00000374362.2_Silent_p.S352S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	352								p.S351S(1)		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						AGGACTTCTCGCCATTTGGCT	0.532000													76	117					0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93300426	93300426	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:93300426A>G	ENST00000370321.3	+	4	370	c.280A>G	c.(280-282)Aat>Gat	p.N94D		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	94					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCCTGACAAATTATGCTGC	0.453000													5	155					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44427675	44427675	+	Silent	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:44427675T>C	ENST00000291547.5	+	3	337	c.126T>C	c.(124-126)ccT>ccC	p.P42P	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	42							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GAGTGAGCCCTCCCCCTGTGG	0.522000													3	151					0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99753343	99753343	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:99753343G>A	ENST00000316937.3	-	9	1531	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V|C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	449										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGGTGAGCGCGCTGCCCTT	0.657000													4	88					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80121090	80121090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr17:80121090G>A	ENST00000389641.4	-	13	2062	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.R676*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	676										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTGAGTCGTGTCACCAGC	0.617000													75	124					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361465	62361465	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:62361465C>G	ENST00000278823.2	-	18	2278	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	MTA2_ENST00000524902.1_Missense_Mutation_p.R457P|MTA2_ENST00000527204.1_Missense_Mutation_p.R457P	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	630					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGGGTCGGCGAGCAGCTCG	0.582000											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	57					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138678882	138678882	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:138678882G>A	ENST00000520602.1	-	22	2568	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	MCF2_ENST00000370576.4_Silent_p.S701S|MCF2_ENST00000519895.1_Silent_p.S777S|MCF2_ENST00000370573.4_Silent_p.S701S|MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000414978.1_Silent_p.S761S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000536274.1_Silent_p.S662S			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	701	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTATCCAAACGCTGAATCCAC	0.388000													7	53					0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520902	153520902	+	Silent	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:153520902T>G	ENST00000368713.3	-	2	256	c.60A>C	c.(58-60)gcA>gcC	p.A20A	S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Silent_p.A20A	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	20	EF-hand 1.						calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCGCCCTGCGTATTCCT	0.612000													15	189					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811388	7811388	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:7811388G>C	ENST00000420658.1	-	9	1279	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C	AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C|AFAP1_ENST00000360265.4_Missense_Mutation_p.S336C|AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	336						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCGTCTGTGGACGGCTTTTT	0.507000													10	22					0	0	1	0	0
GRIA1	0	broad.mit.edu	37	5	153190627	153190627	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:153190627C>T	ENST00000285900.5	+	16	2906	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	855					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGAAGCCATACGGACATCGAC	0.592000													20	34					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7624001	7624001	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:7624001C>G	ENST00000221249.6	+	31	3980	c.3549C>G	c.(3547-3549)ttC>ttG	p.F1183L	PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1222					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGACTGCTTCAAGACCATGG	0.567000													21	37					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123239400	123239400	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:123239400G>T	ENST00000358487.5	-	18	2709	c.2437C>A	c.(2437-2439)Cca>Aca	p.P813T	FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T|FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	813					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTTATGTGTGGATACTGAGGA	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				9	79					2.17888e-05	2.46308e-05	1	1	0
NISCH	11188	broad.mit.edu	37	3	52522494	52522494	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:52522494C>A	ENST00000345716.4	+	16	3120	c.2986C>A	c.(2986-2988)Cgc>Agc	p.R996S	NISCH_ENST00000479054.1_Missense_Mutation_p.R996S	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	996					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCACTTCCTGCGCGTCTACAA	0.647000													3	86					1	1	1	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49791063	49791063	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:49791063G>A	ENST00000249601.4	-	2	465	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	57	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAAACCAGCGCTGCTGCCAG	0.612000													93	100					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10821136	10821136	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:10821136G>T	ENST00000526148.1	-	19	2797	c.2287C>A	c.(2287-2289)Cat>Aat	p.H763N	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N|EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	763	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCTACATGAAGTTTGGGA	0.363000													5	68					0.00307968	0.00333632	1	1	0
RAF1	5894	broad.mit.edu	37	3	12626634	12626634	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:12626634T>C	ENST00000251849.4	-	15	2094	c.1655A>G	c.(1654-1656)aAc>aGc	p.N552S	RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	552	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCTCGGTTGTTGATGTGAGA	0.517000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				3	80					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493494	170493494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:170493494C>T	ENST00000260970.3	+	14	1946	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561*|PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	576	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R576*(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAGAAGAGTGCGATCAAGAAC	0.448000													3	47					0	0	1	0	0
WFDC6	140870	broad.mit.edu	37	20	44167989	44167989	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr20:44167989G>C	ENST00000600168.1	-	1	145	c.58C>G	c.(58-60)Cag>Gag	p.Q20E	WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000555685.1_Intron					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				CCAGGTTCCTGGATGTCCCCC	0.502000													37	40					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172768	51172768	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:51172768A>G	ENST00000440970.1	-	2	3505	c.3074T>C	c.(3073-3075)cTg>cCg	p.L1025P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L1122P|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1122					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAGGGAGCAGAACTGGGGA	0.567000													16	37					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													4	92					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266297	75266297	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr14:75266297G>A	ENST00000325680.7	+	5	4421	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGGGGTCCGATGCAAGCTT	0.483000													4	139					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1789573	1789573	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:1789573C>A	ENST00000539485.1	-	23	2895	c.2662G>T	c.(2662-2664)Gct>Tct	p.A888S	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A878S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	878					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGTGCAGCCAGCGGGAGC	0.692000													2	1					0.0784	0.0832	1	1	0
GAD2	2572	broad.mit.edu	37	10	26575312	26575312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:26575312C>G	ENST00000376261.3	+	13	1778	c.1275C>G	c.(1273-1275)taC>taG	p.Y425*	GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	425					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ATGCCTCCTACCTCTTTCAGC	0.393000													29	39					0	0	1	0	0
MRPL47	57129	broad.mit.edu	37	3	179320488	179320488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:179320488C>A	ENST00000476781.1	-	2	225	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46*|MRPL47_ENST00000392659.2_Intron	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	66					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TCAAAAAATTCTTCTAGTCCT	0.373000													27	44					3.65163e-15	4.21966e-15	1	1	0
SRGAP1	57522	broad.mit.edu	37	12	64491145	64491145	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:64491145T>G	ENST00000355086.3	+	15	2327	c.1803T>G	c.(1801-1803)atT>atG	p.I601M	SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	601	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACGATCTGATTTCTTGTATCA	0.428000													15	29					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542000													3	63					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900696	46900696	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:46900696G>A	ENST00000359759.4	+	12	2801	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	927	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGGTGAACAGCTCCGACGTC	0.721000													13	17					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072309	75072309	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:75072309C>T	ENST00000326665.5	-	10	1683	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	489	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTTCCTGGTCGTCTTCCAAG	0.358000													32	50					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968733	4968733	+	Silent	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrY:4968733C>T	ENST00000333703.4	+	5	3594	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	PCDH11Y_ENST00000362095.5_Silent_p.S1038S|PCDH11Y_ENST00000215473.6_Silent_p.S1038S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1038					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCTGTGTCCGTACACACCA	0.403000													4	67					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239096826	239096826	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:239096826G>A	ENST00000254654.3	-	5	546	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	124	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GATGACGTGGGCATCCTGCAT	0.542000													21	18					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31614196	31614196	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:31614196G>A	ENST00000404765.2	-	8	1182	c.893C>T	c.(892-894)gCt>gTt	p.A298V	BAG6_ENST00000375976.4_Missense_Mutation_p.A298V|BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000375964.6_Missense_Mutation_p.A304V|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000211379.5_Missense_Mutation_p.A298V			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	304	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGTGGTGGCAGCAGCACCCAG	0.572000													3	73					0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418675	43418675	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:43418675G>A	ENST00000357338.3	-	6	1454	c.754C>T	c.(754-756)Cct>Tct	p.P252S	DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000372488.3_Missense_Mutation_p.P252S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	252						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTGGGACAGGTAAGACAAGC	0.672000													34	60					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76532484	76532484	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:76532484T>C	ENST00000307431.8	+	16	2640	c.2255T>C	c.(2254-2256)cTt>cCt	p.L752P	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L756P|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	753	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTGGATTGCTTGCTTATAAA	0.393000													17	19					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6738818	6738818	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:6738818G>A	ENST00000230859.6	+	3	242	c.113G>A	c.(112-114)aGt>aAt	p.S38N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	38					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGCAGCTTTAGTACAGGTCTT	0.418000													84	112					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107569561	107569561	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:107569561G>A	ENST00000393561.1	-	29	5091	c.4907C>T	c.(4906-4908)gCa>gTa	p.A1636V	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1612V			P07942	LAMB1_HUMAN	laminin, beta 1	1612	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTTTAATTGCCTTCTCTGC	0.418000													8	157					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119176912	119176912	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:119176912T>G	ENST00000319172.5	-	3	709	c.289A>C	c.(289-291)Aca>Cca	p.T97P	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	97						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACCACACTGTTTTATAAATG	0.383000													4	77					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478000													4	188					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43654116	43654116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr15:43654116C>A	ENST00000396976.2	-	5	1848	c.1714G>T	c.(1714-1716)Gaa>Taa	p.E572*	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I|ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*|ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	572					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAATTATCTTCATTCTCAAAT	0.343000													3	48					1	1	1	1	0
ARHGAP4	393	broad.mit.edu	37	X	153187219	153187219	+	Silent	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:153187219C>A	ENST00000370028.3	-	2	168	c.111G>T	c.(109-111)ctG>ctT	p.L37L	ARHGAP4_ENST00000370016.1_Silent_p.L37L|ARHGAP4_ENST00000393721.1_Silent_p.L37L|ARHGAP4_ENST00000537206.1_Silent_p.L14L|ARHGAP4_ENST00000350060.5_Silent_p.L37L	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	37	FCH.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCGCCCTGCAGCTCCAGGC	0.687000													4	0					3.59834e-05	3.98114e-05	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576475	33576475	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:33576475C>A	ENST00000504830.1	-	19	3991	c.3656G>T	c.(3655-3657)gGa>gTa	p.G1219V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1219	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGCAGTCCTTCCATTAC	0.557000										HNSCC(64;0.19)			48	58					1.46357e-32	1.72968e-32	1	1	0
PARVG	64098	broad.mit.edu	37	22	44585032	44585032	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr22:44585032G>A	ENST00000444313.3	+	6	770	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000422871.1_Missense_Mutation_p.A96T	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGAGGACATCGCCCTGACAGC	0.652000													7	64					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20067611	20067611	+	Silent	SNP	G	G	A	rs144275026		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr13:20067611G>A	ENST00000400230.2	-	2	86	c.42C>T	c.(40-42)acC>acT	p.T14T	TPTE2_ENST00000382977.4_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T|TPTE2_ENST00000400103.2_Silent_p.T14T|TPTE2_ENST00000382975.4_Silent_p.T14T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	14						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGCCTCCTCGGTTGTTCCTT	0.373000													9	57					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71496023	71496023	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr8:71496023G>A	ENST00000521425.1	-	9	1530	c.494C>T	c.(493-495)tCt>tTt	p.S165F	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.S251F|TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	251	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGCCCACAGAGAAAATCTGCA	0.403000													24	24					0	0	1	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011661	2011661	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:2011661C>T	ENST00000543683.2	+	3	515	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	NDUFB10_ENST00000569148.1_Intron|NDUFB10_ENST00000268668.6_Intron			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	13					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	CCACCCCCAACCCCCCACCAT	0.597000													4	3					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230659	91230659	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:91230659A>G	ENST00000509176.1	+	2	1512	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K	CCSER1_ENST00000432775.2_Silent_p.K408K|CCSER1_ENST00000333691.8_Silent_p.K408K	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AACATGTAAAAGGGATCCATC	0.358000													3	163					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120223462	120223462	+	Splice_Site	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:120223462G>A	ENST00000019103.5	-	5	673	c.406C>T	c.(406-408)Cac>Tac	p.H136Y		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	136					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGTAGGAGTGCTGCAGAGAG	0.622000													3	41					0	0	1	0	0
MRAS	22808	broad.mit.edu	37	3	138117381	138117381	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:138117381C>A	ENST00000289104.4	+	4	1065	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K|MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K|MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	140					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CACCAGGGAGCAAGGAAAAGA	0.512000													3	70					0.150653	0.15668	1	1	0
FAM21C	253725	broad.mit.edu	37	10	46248088	46248088	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:46248088G>A	ENST00000336378.4	+	12	1174	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000540872.1_Silent_p.S352S|FAM21C_ENST00000374362.2_Silent_p.S352S|FAM21C_ENST00000537517.1_Silent_p.S328S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	352								p.S351S(1)		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						AGGACTTCTCGCCATTTGGCT	0.532000													76	117					0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93300426	93300426	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:93300426A>G	ENST00000370321.3	+	4	370	c.280A>G	c.(280-282)Aat>Gat	p.N94D		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	94					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCCTGACAAATTATGCTGC	0.453000													5	155					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27620945	27620945	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr17:27620945G>T	ENST00000225388.4	-	1	191	c.133C>A	c.(133-135)Cac>Aac	p.H45N	NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	45	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtggtggttgtggctg	0.587000													5	112					1.23904e-05	1.41251e-05	1	1	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968733	4968733	+	Silent	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chrY:4968733C>T	ENST00000333703.4	+	5	3594	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	PCDH11Y_ENST00000362095.5_Silent_p.S1038S|PCDH11Y_ENST00000215473.6_Silent_p.S1038S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1038					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCTGTGTCCGTACACACCA	0.403000													4	67					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	338						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413000													7	155					0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99753343	99753343	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr7:99753343G>A	ENST00000316937.3	-	9	1531	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V|C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	449										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGGTGAGCGCGCTGCCCTT	0.657000													4	88					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80121090	80121090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr17:80121090G>A	ENST00000392347.1	-	13	2062	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Nonsense_Mutation_p.R676*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	676										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTGAGTCGTGTCACCAGC	0.617000													75	124					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361465	62361465	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr11:62361465C>G	ENST00000278823.2	-	18	2278	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	MTA2_ENST00000524902.1_Missense_Mutation_p.R457P|MTA2_ENST00000527204.1_Missense_Mutation_p.R457P	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	630					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGGGTCGGCGAGCAGCTCG	0.582000											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	57					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138678882	138678882	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chrX:138678882G>A	ENST00000520602.1	-	22	2568	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	MCF2_ENST00000414978.1_Silent_p.S761S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000370576.4_Silent_p.S701S|MCF2_ENST00000519895.1_Silent_p.S777S|MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000370573.4_Silent_p.S701S			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	701	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTATCCAAACGCTGAATCCAC	0.388000													7	53					0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520902	153520902	+	Silent	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:153520902T>G	ENST00000368713.3	-	2	256	c.60A>C	c.(58-60)gcA>gcC	p.A20A	S100A3_ENST00000368712.1_Silent_p.A20A|S100A4_ENST00000368714.1_Intron	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	20	EF-hand 1.						calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCGCCCTGCGTATTCCT	0.612000													15	189					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	23					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811388	7811388	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr4:7811388G>C	ENST00000420658.1	-	9	1279	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C	AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000360265.4_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	336						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCGTCTGTGGACGGCTTTTT	0.507000													10	22					0	0	1	0	0
GRIA1	0	broad.mit.edu	37	5	153190627	153190627	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr5:153190627C>T	ENST00000285900.5	+	16	2906	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	855					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGAAGCCATACGGACATCGAC	0.592000													20	34					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7624001	7624001	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:7624001C>G	ENST00000221249.6	+	31	3980	c.3549C>G	c.(3547-3549)ttC>ttG	p.F1183L	PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1222					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGACTGCTTCAAGACCATGG	0.567000													21	37					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123239400	123239400	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:123239400G>T	ENST00000358487.5	-	18	2709	c.2437C>A	c.(2437-2439)Cca>Aca	p.P813T	FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	813					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTTATGTGTGGATACTGAGGA	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				9	79					2.17888e-05	2.43522e-05	1	1	0
NISCH	11188	broad.mit.edu	37	3	52522494	52522494	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:52522494C>A	ENST00000345716.4	+	16	3120	c.2986C>A	c.(2986-2988)Cgc>Agc	p.R996S	NISCH_ENST00000479054.1_Missense_Mutation_p.R996S	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	996					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCACTTCCTGCGCGTCTACAA	0.647000													3	86					1	1	1	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49791063	49791063	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:49791063G>A	ENST00000249601.4	-	2	465	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	57	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAAACCAGCGCTGCTGCCAG	0.612000													93	100					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10821136	10821136	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr11:10821136G>T	ENST00000526148.1	-	19	2797	c.2287C>A	c.(2287-2289)Cat>Aat	p.H763N	EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	763	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCTACATGAAGTTTGGGA	0.363000													5	68					0.00307968	0.00331211	1	1	0
RAF1	5894	broad.mit.edu	37	3	12626634	12626634	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:12626634T>C	ENST00000251849.4	-	15	2094	c.1655A>G	c.(1654-1656)aAc>aGc	p.N552S	RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S|RAF1_ENST00000534997.1_Missense_Mutation_p.N337S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	552	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCTCGGTTGTTGATGTGAGA	0.517000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				3	80					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493494	170493494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:170493494C>T	ENST00000260970.3	+	14	1946	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	576	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R576*(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAGAAGAGTGCGATCAAGAAC	0.448000													3	47					0	0	1	0	0
WFDC6	140870	broad.mit.edu	37	20	44167989	44167989	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr20:44167989G>C	ENST00000600168.1	-	1	145	c.58C>G	c.(58-60)Cag>Gag	p.Q20E	EPPIN-WFDC6_ENST00000504988.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN_ENST00000555685.1_Intron					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				CCAGGTTCCTGGATGTCCCCC	0.502000													37	40					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172768	51172768	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr16:51172768A>G	ENST00000440970.1	-	2	3505	c.3074T>C	c.(3073-3075)cTg>cCg	p.L1025P	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L1122P|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1122					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAGGGAGCAGAACTGGGGA	0.567000													16	37					0	0	1	0	0
IGHV1OR15-9	0	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G	rs140304162	by1000genomes	TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr15:20170018C>G	ENST00000338912.5	-	0	253																		p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547000													3	145					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													4	92					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266297	75266297	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr14:75266297G>A	ENST00000325680.7	+	5	4421	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGGGGTCCGATGCAAGCTT	0.483000													4	139					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1789573	1789573	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:1789573C>A	ENST00000539485.1	-	23	2895	c.2662G>T	c.(2662-2664)Gct>Tct	p.A888S	ATP8B3_ENST00000310127.6_Missense_Mutation_p.A878S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	878					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGTGCAGCCAGCGGGAGC	0.692000													2	1					0.0784	0.0827556	1	1	0
GAD2	2572	broad.mit.edu	37	10	26575312	26575312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:26575312C>G	ENST00000376261.3	+	13	1778	c.1275C>G	c.(1273-1275)taC>taG	p.Y425*	GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	425					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ATGCCTCCTACCTCTTTCAGC	0.393000													29	39					0	0	1	0	0
MRPL47	57129	broad.mit.edu	37	3	179320488	179320488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:179320488C>A	ENST00000476781.1	-	2	225	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46*|MRPL47_ENST00000392659.2_Intron	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	66					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TCAAAAAATTCTTCTAGTCCT	0.373000													27	44					3.65163e-15	4.24781e-15	1	1	0
SRGAP1	57522	broad.mit.edu	37	12	64491145	64491145	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr12:64491145T>G	ENST00000355086.3	+	15	2327	c.1803T>G	c.(1801-1803)atT>atG	p.I601M	SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M|SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	601	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACGATCTGATTTCTTGTATCA	0.428000													15	29					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376462.1_Silent_p.P79P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542000													3	63					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900696	46900696	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr21:46900696G>A	ENST00000359759.4	+	12	2801	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	927	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGGTGAACAGCTCCGACGTC	0.721000													13	17					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072309	75072309	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:75072309C>T	ENST00000326665.5	-	10	1683	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	489	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTTCCTGGTCGTCTTCCAAG	0.358000													32	50					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43654116	43654116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr15:43654116C>A	ENST00000396976.2	-	5	1848	c.1714G>T	c.(1714-1716)Gaa>Taa	p.E572*	ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I|ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	572					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAATTATCTTCATTCTCAAAT	0.343000													3	48					1	1	1	1	0
ILKAP	80895	broad.mit.edu	37	2	239096826	239096826	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:239096826G>A	ENST00000254654.3	-	5	546	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	124	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GATGACGTGGGCATCCTGCAT	0.542000													21	18					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31614196	31614196	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr6:31614196G>A	ENST00000404765.2	-	8	1182	c.893C>T	c.(892-894)gCt>gTt	p.A298V	BAG6_ENST00000211379.5_Missense_Mutation_p.A298V|BAG6_ENST00000375964.6_Missense_Mutation_p.A304V|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000375976.4_Missense_Mutation_p.A298V			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	304	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGTGGTGGCAGCAGCACCCAG	0.572000													3	73					0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418675	43418675	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr6:43418675G>A	ENST00000357338.3	-	6	1454	c.754C>T	c.(754-756)Cct>Tct	p.P252S	DLK2_ENST00000372488.3_Missense_Mutation_p.P252S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S|DLK2_ENST00000372485.1_Missense_Mutation_p.P246S	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	252						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTGGGACAGGTAAGACAAGC	0.672000													34	60					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76532484	76532484	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr16:76532484T>C	ENST00000307431.8	+	16	2640	c.2255T>C	c.(2254-2256)cTt>cCt	p.L752P	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L756P|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	753	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTGGATTGCTTGCTTATAAA	0.393000													17	19					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6738818	6738818	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr5:6738818G>A	ENST00000230859.6	+	3	242	c.113G>A	c.(112-114)aGt>aAt	p.S38N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	38					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGCAGCTTTAGTACAGGTCTT	0.418000													84	112					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107569561	107569561	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr7:107569561G>A	ENST00000393561.1	-	29	5091	c.4907C>T	c.(4906-4908)gCa>gTa	p.A1636V	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1612V			P07942	LAMB1_HUMAN	laminin, beta 1	1612	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTTTAATTGCCTTCTCTGC	0.418000													8	157					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119176912	119176912	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:119176912T>G	ENST00000319172.5	-	3	709	c.289A>C	c.(289-291)Aca>Cca	p.T97P	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	97						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACCACACTGTTTTATAAATG	0.383000													4	77					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170677	207170677	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:207170677G>T	ENST00000374423.3	+	5	1811	c.1425G>T	c.(1423-1425)caG>caT	p.Q475H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	475							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAAGTCTTCAGAATGCAAGGC	0.348000													6	15					0.00116845	0.0012808	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576475	33576475	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr5:33576475C>A	ENST00000504830.1	-	19	3991	c.3656G>T	c.(3655-3657)gGa>gTa	p.G1219V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1219	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGCAGTCCTTCCATTAC	0.557000										HNSCC(64;0.19)			48	58					1.46357e-32	1.73799e-32	1	1	0
PARVG	64098	broad.mit.edu	37	22	44585032	44585032	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr22:44585032G>A	ENST00000444313.3	+	6	770	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000422871.1_Missense_Mutation_p.A96T	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGAGGACATCGCCCTGACAGC	0.652000													7	64					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20067611	20067611	+	Silent	SNP	G	G	A	rs144275026		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr13:20067611G>A	ENST00000400230.2	-	2	86	c.42C>T	c.(40-42)acC>acT	p.T14T	TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000400103.2_Silent_p.T14T|TPTE2_ENST00000382975.4_Silent_p.T14T|TPTE2_ENST00000382977.4_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	14						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGCCTCCTCGGTTGTTCCTT	0.373000													9	57					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													2	3					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71496023	71496023	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr8:71496023G>A	ENST00000521425.1	-	9	1530	c.494C>T	c.(493-495)tCt>tTt	p.S165F	TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.S251F			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	251	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGCCCACAGAGAAAATCTGCA	0.403000													24	24					0	0	1	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011661	2011661	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr16:2011661C>T	ENST00000543683.2	+	3	515	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	NDUFB10_ENST00000569148.1_Intron|NDUFB10_ENST00000268668.6_Intron			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	13					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	CCACCCCCAACCCCCCACCAT	0.597000													4	3					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230659	91230659	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr4:91230659A>G	ENST00000509176.1	+	2	1512	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K	CCSER1_ENST00000333691.8_Silent_p.K408K|CCSER1_ENST00000432775.2_Silent_p.K408K	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AACATGTAAAAGGGATCCATC	0.358000													3	163					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120223462	120223462	+	Splice_Site	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:120223462G>A	ENST00000019103.5	-	5	673	c.406C>T	c.(406-408)Cac>Tac	p.H136Y		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	136					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGTAGGAGTGCTGCAGAGAG	0.622000													3	41					0	0	1	0	0
MRAS	22808	broad.mit.edu	37	3	138117381	138117381	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:138117381C>A	ENST00000289104.4	+	4	1065	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K|MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K|MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	140					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CACCAGGGAGCAAGGAAAAGA	0.512000													3	70					0.150653	0.156132	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs	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													7	89	---	---	---	---					
UGT2B10	7365	broad.mit.edu	37	4	69682325	69682326	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:69682325_69682326insC	ENST00000265403.7	+	1	615_616	c.588_589insC	c.(589-591)atgfs	p.M197fs	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	197					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACCTGTTGTTATGTCAAAATT	0.356													25	39	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:14284600delA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaa	0.463													3	6	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs36063533		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	9	---	---	---	---					
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393													7	81	---	---	---	---					
USP15	9958	broad.mit.edu	37	12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:62785633_62785634insA	ENST00000280377.5	+	17	2329_2330	c.2271_2272insA	c.(2272-2274)aaafs	p.K758fs	USP15_ENST00000353364.3_Frame_Shift_Ins_p.K729fs|USP15_ENST00000393654.3_Frame_Shift_Ins_p.K733fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	758					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277													23	28	---	---	---	---					
AC002331.1	0	broad.mit.edu	37	16	26599065	26599068	+	RNA	DEL	ACAG	ACAG	-	rs71134607		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:26599065_26599068delACAG	ENST00000443373.1	-	0	104																											ACATACAGACacagacagacagac	0.353													2	4	---	---	---	---					
CXADRP3	0	broad.mit.edu	37	18	14479021	14479023	+	RNA	DEL	ATC	ATC	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr18:14479021_14479023delATC	ENST00000581457.1	-	0	885_887					NR_024076.1																						CTGGATAGTAATCATCATAAATT	0.374													5	8	---	---	---	---					
SPPL2B	56928	broad.mit.edu	37	19	2338915	2338915	+	RNA	DEL	T	T	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:2338915delT	ENST00000452401.2	+	0	539							Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGGGGGGTTTGTGCCTCA	0.682													7	1	---	---	---	---					
UGT2B10	7365	broad.mit.edu	37	4	69682325	69682326	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr4:69682325_69682326insC	ENST00000265403.7	+	1	615_616	c.588_589insC	c.(589-591)atgfs	p.M197fs	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	197					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACCTGTTGTTATGTCAAAATT	0.356													25	39	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr11:14284600delA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaa	0.463													3	6	---	---	---	---					
USP15	9958	broad.mit.edu	37	12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr12:62785633_62785634insA	ENST00000280377.5	+	17	2329_2330	c.2271_2272insA	c.(2272-2274)aaafs	p.K758fs	USP15_ENST00000353364.3_Frame_Shift_Ins_p.K729fs|USP15_ENST00000393654.3_Frame_Shift_Ins_p.K733fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	758					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277													23	28	---	---	---	---					
CXADRP3	0	broad.mit.edu	37	18	14479021	14479023	+	RNA	DEL	ATC	ATC	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr18:14479021_14479023delATC	ENST00000581457.1	-	0	885_887					NR_024076.1																						CTGGATAGTAATCATCATAAATT	0.374													5	8	---	---	---	---					
ONECUT2	9480	broad.mit.edu	37	18	55103477	55103479	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr18:55103477_55103479delCAC	ENST00000491143.2	+	1	561_563	c.529_531delCAC	c.(529-531)cacdel	p.H184del		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	184	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ccaccatccgcaccaccaccacc	0.655													4	9	---	---	---	---					
SPPL2B	56928	broad.mit.edu	37	19	2338915	2338915	+	RNA	DEL	T	T	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:2338915delT	ENST00000452401.2	+	0	539							Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGGGGGGTTTGTGCCTCA	0.682													7	1	---	---	---	---					
CTC-525D6.1	0	broad.mit.edu	37	19	29919002	29919002	+	RNA	DEL	C	C	-	rs34808890		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:29919002delC	ENST00000582581.1	-	0	409					NR_040029.1																						CTCACTCCTTCCCCCCAACCG	0.632													6	4	---	---	---	---					
