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
MMEL1	79258	broad.mit.edu	37	1	2524105	2524105	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:2524105G>T	uc001ajy.2	-	20	2270	c.2056C>A	c.(2056-2058)Caa>Aaa	p.Q686K	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	686					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTATAGGCTTGCCGCACCCCT	0.682												
ACTRT2	140625	broad.mit.edu	37	1	2939073	2939073	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:2939073G>A	uc001ajz.3	+	0	1028	c.823G>A	c.(823-825)Ggg>Agg	p.G275R		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	275						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCAGAGCCCCGGGCTCTCGAA	0.627												
FLG	2312	broad.mit.edu	37	1	152279722	152279722	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:152279722G>A	uc001ezu.1	-	2	7676	c.7640C>T	c.(7639-7641)tCg>tTg	p.S2547L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2547	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2547*(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCACCTGCGAGTGTCCAGA	0.577									Ichthyosis			
NPR1	4881	broad.mit.edu	37	1	153660673	153660673	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:153660673G>A	uc001fcs.4	+	14	2814	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	NPR1_uc010pdz.2_Missense_Mutation_p.R544H|NPR1_uc010pea.2_Missense_Mutation_p.R276H	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	798	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CAGCAGATCCGCCTGACGTTG	0.602												
NPR1	4881	broad.mit.edu	37	1	153660684	153660684	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:153660684C>T	uc001fcs.4	+	14	2825	c.2404C>T	c.(2404-2406)Cgc>Tgc	p.R802C	NPR1_uc010pdz.2_Missense_Mutation_p.R548C|NPR1_uc010pea.2_Missense_Mutation_p.R280C	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	802	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCTGACGTTGCGCAAATTTAA	0.587												
F5	2153	broad.mit.edu	37	1	169519050	169519050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:169519050G>A	uc001ggg.1	-	9	1745	c.1600C>T	c.(1600-1602)Caa>Taa	p.Q534*	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	534	F5/8 type A 2.	Cleavage; by activated protein C.	R -> Q (in Leiden; associated with THR- APCR; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATTCCTTGCCTGTCCAGG	0.428												
CEP350	9857	broad.mit.edu	37	1	179991889	179991889	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:179991889G>A	uc001gnt.3	+	12	3675	c.3292G>A	c.(3292-3294)Gca>Aca	p.A1098T	CEP350_uc009wxl.2_Missense_Mutation_p.A1097T|CEP350_uc001gnu.3_Missense_Mutation_p.A932T	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1098						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAATGCCACCGCAACTCCTCT	0.398												
PTEN	5728	broad.mit.edu	37	10	89692792	89692792	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr10:89692792C>A	uc001kfb.3	+	4	1308	c.276C>A	c.(274-276)gaC>gaA	p.D92E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	92	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D92H(4)|p.D92E(4)|p.E91*(3)|p.D92G(3)|p.E91Q(2)|p.D92V(2)|p.Y27fs*1(2)|p.Q87_P96del(2)|p.D92N(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.D92Y(1)|p.E91A(1)|p.D92A(1)|p.E91G(1)|p.F90_P95>L(1)|p.F56fs*2(1)|p.D92fs*7(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGAAGACCATAACCCAC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
TRAF6	7189	broad.mit.edu	37	11	36518817	36518817	+	Splice_Site	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:36518817C>A	uc001mwq.2	-	5	829	c.448_splice	c.e5-1	p.D150_splice	TRAF6_uc001mws.2_Splice_Site_p.D150_splice	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	150	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CTTGATGATCCTATAATTAAA	0.363												
SERPING1	710	broad.mit.edu	37	11	57379257	57379257	+	Missense_Mutation	SNP	G	G	A	rs139000758		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:57379257G>A	uc001nkp.1	+	6	1288	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	SERPING1_uc010rju.1_Missense_Mutation_p.R314H|SERPING1_uc010rjv.1_Missense_Mutation_p.R371H|SERPING1_uc001nkr.1_Missense_Mutation_p.R366H|SERPING1_uc001nks.1_Missense_Mutation_p.R57H	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	366					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTGAAACATCGTCTTGAAGAC	0.493												
SIPA1	6494	broad.mit.edu	37	11	65408796	65408796	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:65408796T>G	uc001ofb.2	+	1	571	c.404T>G	c.(403-405)aTg>aGg	p.M135R	SIPA1_uc010rom.1_Missense_Mutation_p.M135R|SIPA1_uc001ofd.2_Missense_Mutation_p.M135R	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	135					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TCTCAGGGGATGGGGAGCCAC	0.622												
GAB2	9846	broad.mit.edu	37	11	77991912	77991912	+	Silent	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:77991912G>A	uc001ozh.3	-	1	213	c.111C>T	c.(109-111)ggC>ggT	p.G37G	GAB2_uc001ozg.3_5'UTR	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	37	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGCTCATCCGGCCACTCCGCA	0.463												
EXPH5	23086	broad.mit.edu	37	11	108385420	108385420	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:108385420A>T	uc001pkk.3	-	5	925	c.814T>A	c.(814-816)Tat>Aat	p.Y272N	EXPH5_uc010rvz.2_Missense_Mutation_p.Y116N|EXPH5_uc010rvy.2_Missense_Mutation_p.Y84N	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	272					intracellular protein transport		Rab GTPase binding	p.I271I(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGATGTCATAGATAGACATA	0.383												
SPIC	121599	broad.mit.edu	37	12	101880330	101880330	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr12:101880330C>T	uc001tid.3	+	5	687	c.528C>T	c.(526-528)taC>taT	p.Y176Y	SPIC_uc010svp.2_Silent_p.Y176Y|SPIC_uc009zua.3_Silent_p.Y51Y|SPIC_uc021rcq.1_Silent_p.Y51Y	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TCAGAAATTACGGAAGAAGTG	0.448												
OR4Q3	441669	broad.mit.edu	37	14	20216091	20216091	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr14:20216091T>C	uc010tkt.2	+	0	505	c.505T>C	c.(505-507)Ttc>Ctc	p.F169L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P168S(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGCTGCCTTTCTGTGGGCC	0.512												
C14orf149	112849	broad.mit.edu	37	14	59942820	59942820	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr14:59942820G>A	uc001xee.1	-	2	830	c.791C>T	c.(790-792)gCa>gTa	p.A264V		NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	264							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CTGTTCATCTGCAAAAACACA	0.353												
GPR68	8111	broad.mit.edu	37	14	91700713	91700713	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr14:91700713G>A	uc021ryk.1	-	0	682	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	GPR68_uc001xzg.3_Missense_Mutation_p.R228W|GPR68_uc001xzh.3_Missense_Mutation_p.R228W	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	228					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGCACCAGCCGCTGGATCTGG	0.677												
RIN3	79890	broad.mit.edu	37	14	93118186	93118186	+	Silent	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr14:93118186C>A	uc001yap.3	+	5	944	c.792C>A	c.(790-792)ccC>ccA	p.P264P	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Silent_p.P189P|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	264	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTTTGCCGCCCACCTCTGATG	0.677												
SNX1	6642	broad.mit.edu	37	15	64415724	64415724	+	Silent	SNP	A	A	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr15:64415724A>G	uc002amv.3	+	4	619	c.489A>G	c.(487-489)gtA>gtG	p.V163V	SNX1_uc010bgv.3_Intron|SNX1_uc010uio.2_Silent_p.V163V|SNX1_uc002amx.3_Silent_p.V98V|SNX1_uc010bgw.3_Silent_p.V65V	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	163	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ATGCATATGTAGCCTACAAAG	0.418												
ANPEP	290	broad.mit.edu	37	15	90340926	90340926	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr15:90340926C>T	uc002bop.4	-	14	2329	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	679	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TGTTGTTCAGCGCCAGAGTGA	0.587												
ARRDC4	91947	broad.mit.edu	37	15	98512581	98512581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr15:98512581G>A	uc010bom.3	+	4	1013	c.854G>A	c.(853-855)tGc>tAc	p.C285Y	ARRDC4_uc002bui.4_Missense_Mutation_p.C198Y	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	285					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CTGGATTGCTGCATTATCAGA	0.423												
MPG	4350	broad.mit.edu	37	16	133088	133088	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:133088G>A	uc002cfn.3	+	3	671	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	MPG_uc002cfm.3_Missense_Mutation_p.R101Q|MPG_uc010bqp.3_Missense_Mutation_p.R101Q|MPG_uc002cfo.3_Missense_Mutation_p.R113Q	NM_002434	NP_001015054	P29372	3MG_HUMAN	Homo sapiens N-methylpurine-DNA glycosylase (MPG), transcript variant 1, mRNA.	118					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	p.R118Q(2)		endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ACAGAACTCCGAGGCCGCATC	0.637								Base excision repair (BER), DNA glycosylases				
CIITA	4261	broad.mit.edu	37	16	11002910	11002910	+	Silent	SNP	G	G	A	rs148091568	byFrequency	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:11002910G>A	uc002daj.4	+	11	2818	c.2685G>A	c.(2683-2685)gcG>gcA	p.A895A	CIITA_uc002dai.4_Silent_p.A894A|CIITA_uc002dak.4_Silent_p.A310A|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	894					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.A894A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACACGGTGGCGCTGTGGGAGT	0.602			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """							
ZNF688	146542	broad.mit.edu	37	16	30581364	30581364	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:30581364G>A	uc002dyt.2	-	2	1482	c.704C>T	c.(703-705)tCc>tTc	p.S235F	ZNF688_uc002dys.2_Missense_Mutation_p.S221F|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCCGGAGCAGGAGCGGTGGAT	0.716												
CYLD	1540	broad.mit.edu	37	16	50788289	50788289	+	Silent	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:50788289G>A	uc021tib.1	+	2	990	c.867G>A	c.(865-867)gcG>gcA	p.A289A	CYLD_uc002egn.1_Silent_p.A289A|CYLD_uc002ego.3_Silent_p.A289A|CYLD_uc010cbs.1_Silent_p.A289A|CYLD_uc002egp.1_Silent_p.A289A|CYLD_uc002egq.1_Silent_p.A289A|CYLD_uc002egr.1_Silent_p.A289A|CYLD_uc002egs.1_Silent_p.A289A	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	289	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.A289A(2)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GTAGTTTTGCGTGTGTTGAAA	0.303			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis			
ZNRF1	84937	broad.mit.edu	37	16	75140419	75140419	+	Frame_Shift_Del	DEL	G	G	-	rs141362193	byFrequency	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:75140419delG	uc010cgr.1	+	4	1474	c.819delG	c.(817-819)ccgfs	p.P273fs	ZNRF1_uc002fdk.3_Frame_Shift_Del_p.P222fs|ZNRF1_uc002fdl.1_Frame_Shift_Del_p.P222fs	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN	Homo sapiens zinc and ring finger 1 (ZNRF1), mRNA.	222						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						GATCTTGTCCGGAACACCCTG	0.612												
DNAAF1	123872	broad.mit.edu	37	16	84203617	84203617	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:84203617A>T	uc002fhl.4	+	7	1364	c.1183A>T	c.(1183-1185)Agt>Tgt	p.S395C	DNAAF1_uc010vnw.2_Missense_Mutation_p.S159C	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	395	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGAAAAGCCAAGTGGAGAGGA	0.577												
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYH8	4626	broad.mit.edu	37	17	10300223	10300223	+	Missense_Mutation	SNP	G	G	A	rs150344258		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:10300223G>A	uc002gmm.2	-	30	4354	c.4259C>T	c.(4258-4260)aCg>aTg	p.T1420M	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1420					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGCTGCTTCGTCTTCTCAAG	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling			
PIRT	644139	broad.mit.edu	37	17	10728581	10728581	+	Missense_Mutation	SNP	G	G	A	rs150727776	by1000genomes	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:10728581G>A	uc010col.3	-	1	677	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	PIRT_uc021tqe.1_Missense_Mutation_p.R128C	NM_001101387	NP_001094857	P0C851	PIRT_HUMAN	Homo sapiens phosphoinositide-interacting regulator of transient receptor potential channels (PIRT), mRNA.	128						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						TTGAGGCTGCGTAAGAAATTC	0.532												
NF1	4763	broad.mit.edu	37	17	29548907	29548907	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:29548907T>C	uc002hgg.3	+	14	2064	c.1681T>C	c.(1681-1683)Tgg>Cgg	p.W561R	NF1_uc002hgf.2_Missense_Mutation_p.W561R|NF1_uc002hgh.3_Missense_Mutation_p.W561R|NF1_uc010csn.2_Missense_Mutation_p.W421R	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	561					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATTGATTTGTGGAATCCTGA	0.294			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
NF1	4763	broad.mit.edu	37	17	29586056	29586056	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:29586056C>A	uc002hgg.3	+	32	4722	c.4339C>A	c.(4339-4341)Cag>Aag	p.Q1447K	NF1_uc002hgh.3_Missense_Mutation_p.Q1426K|NF1_uc002hgi.1_Missense_Mutation_p.Q459K	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1447	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)|p.Q1447K(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTAGATACTTCAGAGTATTGC	0.308			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
DHX40	79665	broad.mit.edu	37	17	57651146	57651146	+	Missense_Mutation	SNP	C	C	G	rs2523371	by1000genomes	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:57651146C>G	uc002ixn.2	+	4	739	c.592C>G	c.(592-594)Cct>Gct	p.P198A	DHX40_uc010woe.2_Missense_Mutation_p.P121A|DHX40_uc002ixo.1_Missense_Mutation_p.P99A	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	198	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGAGAAGTCTCCTAATAGGAA	0.343												
LAMA1	284217	broad.mit.edu	37	18	7011447	7011447	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr18:7011447C>T	uc002knm.3	-	24	3633	c.3539G>A	c.(3538-3540)cGt>cAt	p.R1180H	LAMA1_uc010wzj.2_Missense_Mutation_p.R656H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1180	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAACCACACGCAGAAGAGG	0.552												
MBD1	4152	broad.mit.edu	37	18	47803460	47803460	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr18:47803460C>T	uc002lem.4	-	3	662	c.225_splice	c.e3+1	p.K75_splice	MBD1_uc002lef.3_5'Flank|MBD1_uc002leg.3_Splice_Site_p.K75_splice|MBD1_uc010dow.2_Splice_Site_p.K75_splice|MBD1_uc010xdi.2_Splice_Site_p.K101_splice|MBD1_uc010xdj.2_Splice_Site_p.K75_splice|MBD1_uc002lel.4_Splice_Site_p.K75_splice|MBD1_uc002len.3_Splice_Site_p.K75_splice|MBD1_uc002leh.4_Splice_Site_p.K75_splice|MBD1_uc002lei.4_Splice_Site_p.K75_splice|MBD1_uc002lej.4_Splice_Site_p.K75_splice|MBD1_uc002lek.4_Splice_Site_p.K75_splice|MBD1_uc021ukd.1_Splice_Site_p.K75_splice|MBD1_uc021uke.1_Splice_Site_p.K75_splice|MBD1_uc010xdk.2_Splice_Site_p.K75_splice|MBD1_uc010dox.1_Splice_Site_p.K75_splice|MBD1_uc002leo.2_Splice_Site_p.K75_splice	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	75					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGTGAAGTACCTTGGGGGCTG	0.537												
FECH	2235	broad.mit.edu	37	18	55238743	55238743	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr18:55238743C>T	uc002lgq.4	-	3	461	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FECH_uc002lgp.4_Missense_Mutation_p.R121Q|FECH_uc002lgr.4_5'UTR	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	115					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				CTTGGGGGTTCGGCGTTTGGC	0.473												
PIAS4	51588	broad.mit.edu	37	19	4029001	4029001	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:4029001G>A	uc002lzg.3	+	6	884	c.874G>A	c.(874-876)Ggg>Agg	p.G292R		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	292					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGACCATTGGGGTAAAGCA	0.652												
RGL3	57139	broad.mit.edu	37	19	11512738	11512738	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:11512738G>A	uc002mro.2	-	12	1497	c.1433C>T	c.(1432-1434)cCg>cTg	p.P478L	RGL3_uc002mrn.2_Missense_Mutation_p.P242L|RGL3_uc002mrm.2_Missense_Mutation_p.P242L|RGL3_uc002mrp.2_Missense_Mutation_p.P478L	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	478	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CAGGATGGGCGGGTGGGGGCT	0.672												
CC2D1A	54862	broad.mit.edu	37	19	14034593	14034593	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:14034593C>T	uc002mxo.2	+	16	2208	c.1909C>T	c.(1909-1911)Cgc>Tgc	p.R637C	CC2D1A_uc002mxp.2_Missense_Mutation_p.R637C|CC2D1A_uc010dzh.2_Missense_Mutation_p.R206C|CC2D1A_uc002mxq.1_Missense_Mutation_p.R282C	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	637					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	p.R637H(1)|p.A636T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCCACCGCCCGCTTTGAGCA	0.627												
BRD4	23476	broad.mit.edu	37	19	15374294	15374294	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:15374294G>T	uc002nar.3	-	6	1500	c.1278C>A	c.(1276-1278)ttC>ttA	p.F426L	BRD4_uc002nas.3_Missense_Mutation_p.F426L|BRD4_uc002nat.3_Missense_Mutation_p.F426L|BRD4_uc002nau.4_Missense_Mutation_p.F426L	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	426	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGCAGTTGGAGAACATCAATC	0.562			T	C15orf55	lethal midline carcinoma of young people							
CYP4F3	4051	broad.mit.edu	37	19	15763403	15763403	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:15763403G>A	uc010xok.2	+	7	993	c.943G>A	c.(943-945)Gat>Aat	p.D315N	CYP4F3_uc010xol.2_Missense_Mutation_p.D315N|CYP4F3_uc002nbj.3_Missense_Mutation_p.D315N|CYP4F3_uc010xom.2_Missense_Mutation_p.D166N|CYP4F3_uc002nbk.3_Missense_Mutation_p.D315N|CYP4F3_uc010xon.2_Missense_Mutation_p.D25N	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	315					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAAGTTGTCCGATGAGGACAT	0.517												
LRP3	4037	broad.mit.edu	37	19	33695616	33695616	+	Silent	SNP	A	A	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:33695616A>C	uc010edh.3	+	3	426	c.333A>C	c.(331-333)ccA>ccC	p.P111P	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	111	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	p.P111P(2)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGCAGCCCCACCCCGCCAGG	0.662												
FCGBP	8857	broad.mit.edu	37	19	40368569	40368569	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:40368569C>G	uc002omp.4	-	27	12787	c.12779G>C	c.(12778-12780)cGg>cCg	p.R4260P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4260	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGACCCCCGACATTCGTC	0.662												
LIPE	3991	broad.mit.edu	37	19	42909550	42909550	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:42909550C>T	uc002otr.3	-	7	2806	c.2529G>A	c.(2527-2529)tcG>tcA	p.S843S	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	843					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTATGGGCTCCGACATCTTCT	0.617												
SIGLEC11	114132	broad.mit.edu	37	19	50461997	50461997	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:50461997C>T	uc010ybh.2	-	6	1357	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	SIGLEC11_uc010ybi.2_Silent_p.E422E	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	422	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.E410D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGGGTGGCAGCTCCAGGACCC	0.667												
ZNF525	170958	broad.mit.edu	37	19	53885037	53885037	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:53885037G>A	uc010eqn.3	+	3	1290	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						ACATGCCATCGTAGACTTCAT	0.383												
NLRP12	91662	broad.mit.edu	37	19	54314437	54314437	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:54314437C>T	uc002qcj.4	-	2	696	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R159Q|NLRP12_uc002qci.4_Missense_Mutation_p.R159Q|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R159Q	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	159					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGCAGGAGCCGGGTGTACCG	0.617												
FCAR	2204	broad.mit.edu	37	19	55385735	55385735	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:55385735G>A	uc002qhr.1	+	0					FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_5'UTR|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_5'UTR|FCAR_uc010esi.1_5'UTR|FCAR_uc002qhu.1_5'UTR|FCAR_uc002qhv.1_5'UTR|FCAR_uc002qhw.1_5'UTR|FCAR_uc002qhx.1_5'UTR|FCAR_uc002qhy.1_5'UTR|FCAR_uc002qhz.1_5'UTR|FCAR_uc002qia.1_5'UTR	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GGCTGAGGCCGTGTCAGCACG	0.493												
NLRP8	126205	broad.mit.edu	37	19	56485114	56485114	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:56485114C>T	uc002qmh.3	+	6	2702	c.2631C>T	c.(2629-2631)aaC>aaT	p.N877N	NLRP8_uc010etg.3_Silent_p.N858N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	877						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGCAGAAAACGCCTTGAAAG	0.493												
WTH3DI	150786	broad.mit.edu	37	2	132120971	132120971	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:132120971A>G	uc002tsr.3	-	0	761	c.323T>C	c.(322-324)aTt>aCt	p.I108T		NM_001077637	NP_001071105	Q53S08	Q53S08_HUMAN	Homo sapiens RAB6C-like (WTH3DI), mRNA.	108					protein transport|small GTPase mediated signal transduction		GTP binding										GACATCATCAATCCACTTTGT	0.428												
LRP2	4036	broad.mit.edu	37	2	170113633	170113633	+	Splice_Site	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:170113633C>T	uc002ues.3	-	18	2852	c.2639_splice	c.e18+1	p.A880_splice	LRP2_uc010zdf.1_Splice_Site_p.A743_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	880					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCTACTTACGCCCAATCGA	0.458												
HAT1	8520	broad.mit.edu	37	2	172841151	172841157	+	Frame_Shift_Del	DEL	TTGTCAA	TTGTCAA	-			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:172841151_172841157delTTGTCAA	uc002uhi.3	+	8	955_961	c.879_885delTTGTCAA	c.(877-885)ctttgtcaafs	p.L293fs	HAT1_uc010fqi.2_Frame_Shift_Del_p.L128fs|HAT1_uc002uhj.3_Frame_Shift_Del_p.L208fs	NM_003642	NP_003633	O14929	HAT1_HUMAN	Homo sapiens histone acetyltransferase 1 (HAT1), transcript variant 1, mRNA.	293					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TTGTGAAGCTTTGTCAAGATTTGCCCT	0.338												
TTN	7273	broad.mit.edu	37	2	179547505	179547505	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:179547505G>A	uc021vsy.1	-	131	29506	c.29281C>T	c.(29281-29283)Cca>Tca	p.P9761S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6422S|TTN_uc010fre.1_Missense_Mutation_p.P608S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10688	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTGTTGGTTCATACTCC	0.368												
SGOL2	151246	broad.mit.edu	37	2	201436763	201436763	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:201436763C>A	uc002uvw.2	+	6	1807	c.1694C>A	c.(1693-1695)aCa>aAa	p.T565K	SGOL2_uc010zhd.1_Missense_Mutation_p.T565K|SGOL2_uc010zhe.1_Missense_Mutation_p.T565K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	565					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTAGACGTCACAAATGAATTT	0.323												
ZNF335	63925	broad.mit.edu	37	20	44590737	44590737	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr20:44590737G>A	uc002xqw.3	-	9	1741	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	ZNF335_uc010zxk.2_Missense_Mutation_p.R385W	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R540L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCGGCGTGCCGAATGACGTCC	0.622												
ZNF295	49854	broad.mit.edu	37	21	43411960	43411960	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr21:43411960C>T	uc021wjo.1	-	0	2245	c.2245G>A	c.(2245-2247)Gtc>Atc	p.V749I	ZNF295_uc002yzz.4_Missense_Mutation_p.V548I|ZNF295_uc002zab.4_Missense_Mutation_p.V749I|ZNF295_uc002yzy.4_Missense_Mutation_p.V749I|ZNF295_uc002zaa.4_Missense_Mutation_p.V749I	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	749					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TAAGGGCAGACGGCCGCGTTC	0.552												
ELFN2	114794	broad.mit.edu	37	22	37769260	37769260	+	Missense_Mutation	SNP	C	C	T	rs141641460		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr22:37769260C>T	uc003asq.4	-	2	3101	c.2315G>A	c.(2314-2316)cGc>cAc	p.R772H	ELFN2_uc021wph.1_Missense_Mutation_p.R772H	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	772						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGGCCGGAAGCGCTCCCAGAT	0.617												
TTLL12	23170	broad.mit.edu	37	22	43570225	43570225	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr22:43570225G>A	uc003bdq.3	-	7	1281	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	TTLL12_uc021wqu.1_5'Flank	NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	407	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CACCTTTCCCGCTGCTGGAAG	0.667												
CNTN6	27255	broad.mit.edu	37	3	1262380	1262380	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr3:1262380T>A	uc003boz.3	+	2	332	c.65T>A	c.(64-66)cTt>cAt	p.L22H	CNTN6_uc010hbo.2_Missense_Mutation_p.L17H|CNTN6_uc011asj.2_5'UTR|CNTN6_uc003bpa.3_Missense_Mutation_p.L22H	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	22					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTGATGGTCTTTTAAGCCGT	0.333												
BBX	56987	broad.mit.edu	37	3	107497367	107497367	+	Splice_Site	SNP	G	G	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr3:107497367G>T	uc010hpr.3	+	13	2530	c.2203_splice	c.e13+1	p.G735_splice	BBX_uc003dwk.4_Splice_Site_p.G735_splice|BBX_uc003dwl.4_Splice_Site_p.K398_splice|BBX_uc003dwm.4_Splice_Site_p.G735_splice|BBX_uc003dwo.4_Splice_Site_p.K84_splice	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	735	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCAGCAAAGGTTAGGTGTGA	0.428												
ZCCHC4	29063	broad.mit.edu	37	4	25366728	25366728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr4:25366728G>A	uc003grl.4	+	11	1382	c.1346G>A	c.(1345-1347)gGt>gAt	p.G449D		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	449							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTATTTGTGGTGAACTGGAT	0.398												
GABRA4	2557	broad.mit.edu	37	4	46930680	46930680	+	Silent	SNP	A	A	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr4:46930680A>G	uc003gxg.3	-	8	2210	c.1227T>C	c.(1225-1227)caT>caC	p.H409H	GABRA4_uc021xnz.1_Silent_p.H390H|GABRA4_uc021xoa.1_Silent_p.H339H	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	409					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTTGCTTGAATGGTTTCCCA	0.418												
DCHS2	54798	broad.mit.edu	37	4	155287453	155287453	+	Silent	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr4:155287453G>A	uc003inw.2	-	4	603	c.603C>T	c.(601-603)gcC>gcT	p.A201A	DCHS2_uc003inx.2_Silent_p.A795A	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	201	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTGGTCAGTGGCAAGAACAT	0.473												
SLC12A7	10723	broad.mit.edu	37	5	1057736	1057736	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:1057736G>A	uc003jbu.3	-	21	2942	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	959					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGTGTGGGACGCGGTGTTCCT	0.662												
DNAH5	1767	broad.mit.edu	37	5	13865969	13865969	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:13865969C>T	uc003jfd.2	-	26	4205	c.4163G>A	c.(4162-4164)gGa>gAa	p.G1388E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1388	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGCTCCTCTCCTCCAGTATA	0.328									Kartagener syndrome			
ADAMTS12	81792	broad.mit.edu	37	5	33576987	33576987	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:33576987G>C	uc003jia.1	-	18	3307	c.3144C>G	c.(3142-3144)atC>atG	p.I1048M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.I963M	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1048	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1047E(1)		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						TAGGGCTGCTGATTGCTGGAG	0.562										HNSCC(64;0.19)		
NIM1	167359	broad.mit.edu	37	5	43280335	43280335	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:43280335G>A	uc003jno.3	+	3	1696	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	272	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										ATGCCATTTCGGGCAGAAACC	0.557												
PIK3R1	5295	broad.mit.edu	37	5	67591135	67591136	+	Frame_Shift_Ins	INS	-	-	A	rs149090706	byFrequency	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:67591135_67591136insA	uc003jva.3	+	12	2308_2309	c.1728_1729insA	c.(1726-1731)acgagafs	p.T576fs	PIK3R1_uc003jvc.3_Frame_Shift_Ins_p.T276fs|PIK3R1_uc003jvd.3_Frame_Shift_Ins_p.T306fs|PIK3R1_uc003jve.3_Frame_Shift_Ins_p.T255fs|PIK3R1_uc021xzn.1_Frame_Shift_Ins_p.T213fs|PIK3R1_uc011crb.2_Frame_Shift_Ins_p.T246fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	576					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.T576del(6)|p.L570_D578del(2)|p.R574_T576del(2)|p.0?(1)|p.?(1)|p.R577_M582>K(1)|p.R577K(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TGAGAAAGACGAGAGACCAATA	0.371			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
SPINK9	643394	broad.mit.edu	37	5	147715209	147715209	+	Silent	SNP	T	T	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:147715209T>C	uc003lpe.1	+	0	88	c.33T>C	c.(31-33)gcT>gcC	p.A11A	AK054753_uc003lpb.1_Intron	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 9 (SPINK9), mRNA.	11						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCTTGGCTCTGACACTTG	0.473												
HIST1H2BE	8344	broad.mit.edu	37	6	26184184	26184184	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr6:26184184G>A	uc003ngt.3	+	0	161	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CCCGACACCGGCATCTCCTCT	0.577												
USP49	25862	broad.mit.edu	37	6	41774357	41774357	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr6:41774357G>A	uc003ori.3	-	3	587	c.365C>T	c.(364-366)tCg>tTg	p.S122L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	122					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCCTCACCCGAAGCCATGGA	0.692												
ABCB5	340273	broad.mit.edu	37	7	20778686	20778686	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:20778686C>T	uc010kuh.3	+	23	3185	c.2948C>T	c.(2947-2949)tCg>tTg	p.S983L	ABCB5_uc003suw.4_Missense_Mutation_p.S538L	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	538					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAAGCCAAATCGGGGGCTGCG	0.423												
TRGV8	6982	broad.mit.edu	37	7	38370110	38370110	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:38370110T>G	uc010kxj.1	-	1	324	c.188A>C	c.(187-189)cAg>cCg	p.Q63P	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		CAGAAGACGCTGTGGGGCCTT	0.493												
CDK13	8621	broad.mit.edu	37	7	40132440	40132442	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:40132440_40132442delCTA	uc003thh.4	+	12	3574_3576	c.3292_3294delCTA	c.(3292-3294)ctadel	p.L1099del	CDK13_uc003thi.4_Intron|CDK13_uc003thj.3_In_Frame_Del_p.L150del|CDK13_uc003thk.3_In_Frame_Del_p.L32del	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1099					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCTACTAAACCTACTACAATCTA	0.335												
CDK13	8621	broad.mit.edu	37	7	40132451	40132451	+	Silent	SNP	T	T	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:40132451T>G	uc003thh.4	+	12	3585	c.3303T>G	c.(3301-3303)tcT>tcG	p.S1101S	CDK13_uc003thi.4_Intron|CDK13_uc003thj.3_Silent_p.S152S|CDK13_uc003thk.3_Silent_p.S34S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1101					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TACTACAATCTAAAACAAGTG	0.343												
COBL	23242	broad.mit.edu	37	7	51111289	51111289	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:51111289C>T	uc003tps.3	-	8	1553	c.1368G>A	c.(1366-1368)gcG>gcA	p.A456A	COBL_uc003tpr.4_Silent_p.A399A|COBL_uc011kcl.2_Silent_p.A399A|COBL_uc010kzc.3_Silent_p.A399A|COBL_uc003tpp.4_Silent_p.A185A|COBL_uc003tpq.4_Silent_p.A340A	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	399										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGTCCTCCGACGCAAAACAGC	0.607												
PCLO	27445	broad.mit.edu	37	7	82595145	82595146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:82595145_82595146insG	uc003uhx.2	-	3	4247_4248	c.3958_3959insC	c.(3958-3960)cagfs	p.Q1320fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.Q1320fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1259					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTGTGGCTGTTCTTTTATT	0.406												
PIK3CG	5294	broad.mit.edu	37	7	106508499	106508499	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:106508499G>A	uc003vdv.4	+	1	578	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	PIK3CG_uc003vdu.3_Missense_Mutation_p.V165I|PIK3CG_uc003vdw.3_Missense_Mutation_p.V165I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	165					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V165I(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTCACTGACGTCAGCAACGT	0.677												
CADPS2	93664	broad.mit.edu	37	7	122261662	122261662	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:122261662G>A	uc022akp.1	-	4	1399	c.977C>T	c.(976-978)tCg>tTg	p.S326L	CADPS2_uc003vkg.4_Missense_Mutation_p.S26L|CADPS2_uc022akq.1_Missense_Mutation_p.S326L|CADPS2_uc010lkq.3_Missense_Mutation_p.S326L|CADPS2_uc022akr.1_Missense_Mutation_p.S326L	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	326					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.S326S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACCACCTTTCGAAACTGGAAG	0.363												
FGF20	26281	broad.mit.edu	37	8	16850701	16850701	+	Silent	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr8:16850701G>A	uc003wxc.1	-	2	649	c.516C>T	c.(514-516)gaC>gaT	p.D172D	FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	172					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTGGAGTTCCGTCTTTGTTAA	0.428												
KCNV1	27012	broad.mit.edu	37	8	110984912	110984912	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr8:110984912C>T	uc003ynr.4	-	1	1370	c.566G>A	c.(565-567)tGt>tAt	p.C189Y	KCNV1_uc010mcw.3_Missense_Mutation_p.C189Y	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	189						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AACAGTGGGACAAGGTCCTTG	0.483												
SLURP1	57152	broad.mit.edu	37	8	143823793	143823793	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr8:143823793C>T	uc003ywy.3	-	0	37	c.11G>A	c.(10-12)cGc>cAc	p.R4H		NM_020427	NP_065160	P55000	SLUR1_HUMAN	Homo sapiens secreted LY6/PLAUR domain containing 1 (SLURP1), mRNA.	4					cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACAGCCCAGCGAGAGGCCAT	0.642												
HIATL2	84278	broad.mit.edu	37	9	99735156	99735156	+	Silent	SNP	A	A	C	rs2479231	by1000genomes	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr9:99735156A>C	uc004aws.3	-	1	397	c.183T>G	c.(181-183)ctT>ctG	p.L61L						Homo sapiens hippocampus abundant transcript-like 2 (HIATL2), non-coding RNA.									p.L61L(1)									GAGTTGTCAAAAGGCCCCACG	0.388												
OR1Q1	158131	broad.mit.edu	37	9	125377107	125377107	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr9:125377107T>G	uc011lyy.2	+	0	91	c.91T>G	c.(91-93)Ttc>Gtc	p.F31V		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTCCTTGTTTTCTCACTCAT	0.483												
NTNG2	84628	broad.mit.edu	37	9	135073896	135073896	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr9:135073896C>T	uc004cbh.2	+	2	1533	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	253	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CACCGACCTGCGCATGCGGCT	0.637												
CSF2RA	1438	broad.mit.edu	37	X	1407423	1407423	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chrX:1407423C>T	uc010nct.2	+	5	553	c.231C>T	c.(229-231)aaC>aaT	p.N77N	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.N77N|CSF2RA_uc004cpq.2_Silent_p.N77N|CSF2RA_uc004cpn.2_Silent_p.N77N|CSF2RA_uc004cpo.2_Silent_p.N77N|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.N77N|CSF2RA_uc010ncv.2_Silent_p.N77N|CSF2RA_uc004cpr.2_Silent_p.N77N	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	77						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCAGTAACAACGAATGTTCGT	0.453												
SLC25A6	293	broad.mit.edu	37	X	1505534	1505534	+	Silent	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chrX:1505534G>A	uc004cpt.3	-	3	995	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CRLF2_uc022brt.1_Intron	NM_001636	NP_001627	P12236	ADT3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA.	286					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GGACCAGCACGAAGGCGCCCC	0.602												
NRK	203447	broad.mit.edu	37	X	105153812	105153812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chrX:105153812C>T	uc004emd.3	+	12	2482	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	NRK_uc010npc.1_Missense_Mutation_p.R395C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	727			R -> H (in dbSNP:rs33936206).				ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R726fs*17(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAGGCAAAGGCGCCAACGCAG	0.408										HNSCC(51;0.14)		
