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
DNAJC6	9829	broad.mit.edu	37	1	65845142	65845142	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:65845142G>A	uc001dce.1	+	4	802	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	DNAJC6_uc001dcc.1_Missense_Mutation_p.V175M|DNAJC6_uc001dcd.1_Missense_Mutation_p.V144M|DNAJC6_uc010opc.1_Missense_Mutation_p.V131M	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	144	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCTTTTTGCTGTGTGTCGGAA	0.458												
VAV3	10451	broad.mit.edu	37	1	108417540	108417540	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:108417540C>A	uc001dvk.1	-	1	358	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	VAV3_uc010ouw.1_Missense_Mutation_p.V102F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.V102F	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	102	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGTCACGAACATCAAACAAG	0.358												
FLG	2312	broad.mit.edu	37	1	152284952	152284952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:152284952C>A	uc001ezu.1	-	2	2446	c.2410G>T	c.(2410-2412)Gag>Tag	p.E804*	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	804	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TGGGAGGACTCAGACTGTTTA	0.572									Ichthyosis			
CD1E	913	broad.mit.edu	37	1	158323687	158323687	+	Translation_Start_Site	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:158323687C>T	uc001fse.3	+	0					CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_5'UTR|CD1E_uc001fsh.3_5'UTR|CD1E_uc001fry.3_5'UTR|CD1E_uc001fsf.3_5'UTR|CD1E_uc001fsg.3_5'UTR|CD1E_uc009wsv.3_5'UTR|CD1E_uc001fsj.3_5'UTR|CD1E_uc001fsk.3_5'UTR|CD1E_uc001fsa.3_5'UTR|CD1E_uc001fsd.3_5'UTR|CD1E_uc001frz.3_5'UTR|CD1E_uc010pig.2_5'UTR|CD1E_uc001fsc.3_5'UTR|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.						antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGAAGTCAGACGAGAGTGCAA	0.542												
PTEN	5728	broad.mit.edu	37	10	89685315	89685318	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:89685315_89685318delGTAA	uc001kfb.3	+	3	1241	c.209_splice	c.e3+1	p.L70_splice	PTEN_uc021pvw.1_Intron	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	70	Phosphatase tensin-type.		L -> P (in CD).		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.?(17)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(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)		TATACAATCTGTAAGTATGTTTTC	0.275		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)		
BTRC	8945	broad.mit.edu	37	10	103281492	103281492	+	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103281492T>G	uc001kta.3	+	4	534	c.421T>G	c.(421-423)Ttt>Gtt	p.F141V	BTRC_uc001ktb.3_Missense_Mutation_p.F105V|BTRC_uc001ktc.3_Missense_Mutation_p.F115V	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	141	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGTCAAATACTTTGAGCAGTG	0.413												
PITX3	5309	broad.mit.edu	37	10	103990780	103990780	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103990780C>A	uc001kuu.1	-	3	554	c.400G>T	c.(400-402)Gcg>Tcg	p.A134S		NM_005029	NP_005020	O75364	PITX3_HUMAN	Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.	134					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCGGCGCCGCGAAGCTGCCT	0.711												
C11orf30	56946	broad.mit.edu	37	11	76164415	76164415	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:76164415A>C	uc001oxl.3	+	3	371	c.228A>C	c.(226-228)ttA>ttC	p.L76F	C11orf30_uc001oxj.3_Missense_Mutation_p.L76F|C11orf30_uc001oxk.3_Missense_Mutation_p.L76F|C11orf30_uc009yuj.1_Missense_Mutation_p.L76F|C11orf30_uc010rsa.1_Missense_Mutation_p.L76F|C11orf30_uc001oxm.3_Missense_Mutation_p.L76F|C11orf30_uc010rsb.2_Missense_Mutation_p.L76F|C11orf30_uc010rsc.2_Missense_Mutation_p.L76F|C11orf30_uc001oxn.3_Missense_Mutation_p.L76F|C11orf30_uc010rsd.2_Missense_Mutation_p.L76F	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	76	ENT.|Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATGAACGGTTAACAACAATTG	0.403												
ELMOD1	55531	broad.mit.edu	37	11	107518220	107518220	+	Silent	SNP	T	T	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:107518220T>A	uc010rvs.2	+	6	851	c.447T>A	c.(445-447)acT>acA	p.T149T	ELMOD1_uc001pjm.3_Silent_p.T149T|ELMOD1_uc010rvt.2_Silent_p.T143T	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	149	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGCCCAATACTCCACTGGAAT	0.383												
WNK1	65125	broad.mit.edu	37	12	998382	998382	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:998382C>T	uc021qss.1	+	20	6864	c.6221C>T	c.(6220-6222)gCg>gTg	p.A2074V	WNK1_uc001qio.4_Missense_Mutation_p.A1814V|WNK1_uc021qst.1_Missense_Mutation_p.A2066V|WNK1_uc001qip.4_Missense_Mutation_p.A1567V|WNK1_uc001qir.4_Missense_Mutation_p.A987V	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1814					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGACTTCTGCGGTTGGTGTA	0.368												
RERG	85004	broad.mit.edu	37	12	15262109	15262109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:15262109G>A	uc001rcs.3	-	3	675	c.535C>T	c.(535-537)Cga>Tga	p.R179*	RERG_uc001rct.3_Nonsense_Mutation_p.R179*|RERG_uc010shu.2_Nonsense_Mutation_p.R160*	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	179					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	p.R179*(2)|p.R178R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCTGCGTCGCCTCGTCTTG	0.532												
AVPR1A	552	broad.mit.edu	37	12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:63543857G>A	uc001sro.1	-	0	2734	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	254					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.R254C(2)|p.S253*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGCTCTGGCGCGACGCCGTC	0.617												
SYT1	6857	broad.mit.edu	37	12	79693293	79693293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:79693293G>T	uc001sys.3	+	8	1443	c.772G>T	c.(772-774)Gag>Tag	p.E258*	SYT1_uc001syt.3_Nonsense_Mutation_p.E258*|SYT1_uc001syu.3_Nonsense_Mutation_p.E255*|SYT1_uc001syv.3_Nonsense_Mutation_p.E258*	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	258	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCATGTAACTGAGGAATGGCG	0.418												
KSR2	283455	broad.mit.edu	37	12	118198971	118198971	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:118198971C>T	uc001two.2	-	3	799	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	277	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P248P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCATGGGCGGCGTGCCCG	0.701												
ZNF268	10795	broad.mit.edu	37	12	133780200	133780200	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:133780200A>G	uc010tch.2	+	5	2134	c.1928A>G	c.(1927-1929)aAt>aGt	p.N643S	ZNF268_uc010tbv.1_Missense_Mutation_p.N482S|ZNF268_uc010tbz.1_Missense_Mutation_p.N482S|ZNF268_uc010tcc.1_Missense_Mutation_p.N482S|ZNF268_uc010tcd.1_Missense_Mutation_p.N482S|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Missense_Mutation_p.N643S|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Missense_Mutation_p.N560S	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	643						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TATAGTTGTAATGAATGTGGA	0.383												
MTUS2	23281	broad.mit.edu	37	13	29675102	29675102	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:29675102C>T	uc001usl.4	+	2	2727	c.2669C>T	c.(2668-2670)gCc>gTc	p.A890V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	880	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCCGGCCAGCCACCCGTAAG	0.582												
PDS5B	23047	broad.mit.edu	37	13	33327545	33327545	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:33327545G>C	uc010abf.3	+	24	2998	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	938					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCTTCCACTTGAGTATATGGC	0.413												
GPR180	160897	broad.mit.edu	37	13	95275364	95275364	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:95275364G>C	uc001vly.3	+	7	973	c.895_splice	c.e7-1	p.S299_splice	GPR180_uc001vlz.3_Splice_Site_p.S198_splice|GPR180_uc010afi.3_Splice_Site_p.S60_splice	NM_180989	NP_851320	Q86V85	GP180_HUMAN	Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA.	299						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CTTTTGCAGAGTGTTTTGCTA	0.299												
GZMB	3002	broad.mit.edu	37	14	25101153	25101153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:25101153G>A	uc001wps.2	-	3	577	c.511C>T	c.(511-513)Cga>Tga	p.R171*	GZMB_uc010ama.2_Nonsense_Mutation_p.R159*|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	171	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.R171*(2)|p.R205*(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCGCACTTTCGATCTTCCTGC	0.517												
HEATR5A	25938	broad.mit.edu	37	14	31852819	31852835	+	Frame_Shift_Del	DEL	GTGAAGACTTATGTCCA	GTGAAGACTTATGTCCA	-			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:31852819_31852835delGTGAAGACTTATGTCCA	uc001wrf.4	-	9	1673_1689	c.1488_1504delTGGACATAAGTCTTCAC	c.(1486-1506)actggacataagtcttcacctfs	p.T496fs	HEATR5A_uc010ami.3_Frame_Shift_Del_p.T101fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T85fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T496fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	490							binding	p.G491>?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTGCTTCAGGTGAAGACTTATGTCCAGTAAGCCGTT	0.461												
NIN	51199	broad.mit.edu	37	14	51239167	51239167	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:51239167C>T	uc001wyi.3	-	8	1024	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R278Q|NIN_uc001wyk.3_Missense_Mutation_p.R278Q|NIN_uc001wyo.3_Missense_Mutation_p.R278Q|NIN_uc001wyp.1_Missense_Mutation_p.R240Q	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	278					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGGTACGTCGTCCACTCTC	0.498			T	PDGFRB	MPD							
SMEK1	55671	broad.mit.edu	37	14	91948148	91948148	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:91948148A>G	uc001xzn.3	-	3	1509	c.687T>C	c.(685-687)gcT>gcC	p.A229A	SMEK1_uc001xzm.3_Silent_p.A229A|SMEK1_uc001xzo.3_Silent_p.A229A|SMEK1_uc010atz.3_Intron|SMEK1_uc001xzp.1_Non-coding_Transcript|SMEK1_uc001xzq.1_Silent_p.A105A	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	229						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTGTGATAAAGCAGGATCAT	0.353												
C15orf2	23742	broad.mit.edu	37	15	24921847	24921847	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:24921847C>T	uc001ywo.3	+	0	1307	c.833C>T	c.(832-834)gCg>gTg	p.A278V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	278					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAGTTGGCTGCGGAAGTGCTG	0.602												
MAPKBP1	23005	broad.mit.edu	37	15	42109162	42109162	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:42109162C>T	uc001zok.4	+	14	1944	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	MAPKBP1_uc010bci.3_Missense_Mutation_p.A547V|MAPKBP1_uc010udb.2_Missense_Mutation_p.A386V|MAPKBP1_uc001zoj.4_Missense_Mutation_p.A547V|MAPKBP1_uc010bcj.3_Missense_Mutation_p.A54V|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.A54V	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	553										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTGCTGGATGCCGGGCGGGAG	0.582												
TLN2	83660	broad.mit.edu	37	15	63127965	63127965	+	Silent	SNP	C	C	T	rs139730009		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:63127965C>T	uc002alb.4	+	52	7158	c.7158C>T	c.(7156-7158)gaC>gaT	p.D2386D	TLN2_uc002alc.4_Silent_p.D779D|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2386	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D2386D(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATGCTGCAGACGACGGACAGT	0.597												
SV2B	9899	broad.mit.edu	37	15	91811770	91811770	+	Silent	SNP	C	C	T	rs140230861		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:91811770C>T	uc002bqv.3	+	9	2199	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	SV2B_uc002bqt.3_Silent_p.Y436Y|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.Y285Y	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	436					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGCATGTGTACGGCGCCACAA	0.418												
CREBBP	1387	broad.mit.edu	37	16	3820625	3820625	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:3820625A>G	uc002cvv.3	-	13	3030	c.2826T>C	c.(2824-2826)ccT>ccC	p.P942P	CREBBP_uc002cvw.3_Silent_p.P904P	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	942					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGATGACTGAGGGGTAGCCA	0.627			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
ATXN2L	11273	broad.mit.edu	37	16	28844550	28844550	+	Silent	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:28844550A>T	uc002dqy.3	+	13	1997	c.1830A>T	c.(1828-1830)ccA>ccT	p.P610P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.P586P|ATXN2L_uc002dqz.3_Silent_p.P610P|ATXN2L_uc002dra.3_Silent_p.P610P|ATXN2L_uc002drb.3_Silent_p.P610P|ATXN2L_uc002drc.3_Silent_p.P610P|ATXN2L_uc010vdb.2_Silent_p.P616P|ATXN2L_uc002dre.3_Silent_p.P610P|ATXN2L_uc002drf.3_Silent_p.P19P|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	610						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGACAAACCACCCCTGGCAC	0.592												
CCDC135	84229	broad.mit.edu	37	16	57741548	57741548	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:57741548G>A	uc002emi.3	+	6	1124	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CCDC135_uc002emj.3_Silent_p.K345K|CCDC135_uc002emk.3_Silent_p.K280K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	345						cytoplasm		p.K345T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAACCACAAGAACTACTGGA	0.552												
GUCY2D	3000	broad.mit.edu	37	17	7909994	7909994	+	Missense_Mutation	SNP	C	C	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:7909994C>G	uc002gjt.2	+	3	1414	c.1340C>G	c.(1339-1341)cCc>cGc	p.P447R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	447					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGACCTGACCCCTCGTGCTGG	0.612												
HS3ST3A1	9955	broad.mit.edu	37	17	13400013	13400013	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:13400013A>G	uc002gob.1	-	1	1520	c.722T>C	c.(721-723)gTg>gCg	p.V241A		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	241						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCCGCACCACCACGATGAG	0.632												
MRC2	9902	broad.mit.edu	37	17	60757258	60757258	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:60757258G>A	uc002jad.3	+	13	2695	c.2293G>A	c.(2293-2295)Gta>Ata	p.V765I	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	765	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGCGACGGCGTAGGGGTGAG	0.662												
ARHGAP28	79822	broad.mit.edu	37	18	6894892	6894892	+	Splice_Site	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:6894892T>C	uc002knc.3	+	15	4960	c.1749_splice	c.e15+2	p.M583_splice	ARHGAP28_uc002kne.3_Splice_Site_p.M476_splice|ARHGAP28_uc010wzi.2_Splice_Site_p.M458_splice|ARHGAP28_uc002knf.3_Splice_Site_p.M467_splice	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	458					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGACGAATGGTAAGAAAAATA	0.383												
SOGA2	23255	broad.mit.edu	37	18	8783917	8783917	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:8783917G>C	uc002knr.2	+	5	949	c.807G>C	c.(805-807)gaG>gaC	p.E269D	SOGA2_uc002knq.2_Missense_Mutation_p.E269D|SOGA2_uc010dkw.1_Missense_Mutation_p.E107D	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	620	Pro-rich.																ACTCCCTGGAGTCCTCCACTG	0.637												
CIDEA	1149	broad.mit.edu	37	18	12274219	12274219	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:12274219A>T	uc002kqt.4	+	3	523	c.458A>T	c.(457-459)gAg>gTg	p.E153V	CIDEA_uc002kqu.4_Missense_Mutation_p.E187V|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	153					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACCATGTATGAGATGTACTCC	0.587												
DSC1	1823	broad.mit.edu	37	18	28736015	28736015	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:28736015G>A	uc002kwn.3	-	3	724	c.462C>T	c.(460-462)caC>caT	p.H154H	DSC1_uc002kwm.3_Silent_p.H154H	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	154	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTGCTGAACGTGTTGTGGAA	0.403												
DCC	1630	broad.mit.edu	37	18	50977004	50977004	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:50977004A>C	uc002lfe.2	+	22	3980	c.3364A>C	c.(3364-3366)Acc>Ccc	p.T1122P	DCC_uc010dpf.2_Missense_Mutation_p.T757P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1122					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.T1122T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTGATTTGCACCCGACGCTC	0.483												
ZFR2	23217	broad.mit.edu	37	19	3825268	3825268	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:3825268C>T	uc002lyw.2	-	6	1185	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	ZFR2_uc010xhx.1_Intron	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	391						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCTTGGCCAGCGCTGGCCTGC	0.672												
INSR	3643	broad.mit.edu	37	19	7184472	7184472	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:7184472C>T	uc002mgd.1	-	2	938	c.829G>A	c.(829-831)Gac>Aac	p.D277N	INSR_uc002mge.1_Missense_Mutation_p.D277N|INSR_uc002mgf.3_Missense_Mutation_p.D277N	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	277	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCGCCAGTCCTGGAAGTGG	0.602												
RAB11B	9230	broad.mit.edu	37	19	8468383	8468383	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:8468383G>A	uc002mju.4	+	4	694	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	RAB11B_uc021uof.1_Non-coding_Transcript	NM_004218	NP_004209	Q15907	RB11B_HUMAN	Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.	200					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GGACATCAGCGTGCCGCCCAC	0.647												
ZNF527	84503	broad.mit.edu	37	19	37879435	37879435	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:37879435G>C	uc010efk.1	+	4	595	c.484G>C	c.(484-486)Gac>Cac	p.D162H	ZNF527_uc002ogf.3_Missense_Mutation_p.D130H|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGGAAAAGAGACAATGAATT	0.378												
EHD3	30845	broad.mit.edu	37	2	31467312	31467312	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:31467312A>T	uc002rnu.3	+	1	1008	c.400A>T	c.(400-402)Aac>Tac	p.N134Y	EHD3_uc010ymt.2_Missense_Mutation_p.N134Y	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	134					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGCCTTCTTGAACAGGTGAGT	0.537												
BIRC6	57448	broad.mit.edu	37	2	32774411	32774411	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:32774411G>A	uc010ezu.3	+	64	13141	c.13007G>A	c.(13006-13008)aGt>aAt	p.S4336N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4336					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCGTCAGTAGTGCGGTAAAT	0.398												
TUBA3D	113457	broad.mit.edu	37	2	132237806	132237806	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:132237806C>T	uc002tsu.4	+	3	733	c.540C>T	c.(538-540)gcC>gcT	p.A180A		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	180					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTCCACAGCCGTGGTGGAGC	0.547												
LY75-CD302	4065	broad.mit.edu	37	2	160729003	160729003	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:160729003A>G	uc002ubb.4	-	12	2150	c.2076T>C	c.(2074-2076)gaT>gaC	p.D692D	LY75-CD302_uc010fos.3_Silent_p.D692D|LY75-CD302_uc002ubc.4_Silent_p.D692D|LY75-CD302_uc010fot.2_Silent_p.D692D	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	692	C-type lectin 4.		D -> N (in dbSNP:rs1397706).		endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CCTTTATTTCATCCACATGGC	0.378												
LRP2	4036	broad.mit.edu	37	2	170009391	170009391	+	Missense_Mutation	SNP	G	G	A	rs148356370	byFrequency	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:170009391G>A	uc002ues.3	-	66	12592	c.12379C>T	c.(12379-12381)Cgc>Tgc	p.R4127C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4127					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	p.R4127H(1)		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)	AGATTATTGCGGCCGGATTCA	0.468												
PDE11A	50940	broad.mit.edu	37	2	178969184	178969184	+	Missense_Mutation	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:178969184T>C	uc002ulr.3	-	1	106	c.7A>G	c.(7-9)Aag>Gag	p.K3E	PDE11A_uc002ult.1_Missense_Mutation_p.K3E	NM_001077197	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 3, mRNA.	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTTGCCTGCTTCAGCATCTCC	0.408									Primary Pigmented Nodular Adrenocortical Disease, Familial			
TTN	7273	broad.mit.edu	37	2	179442852	179442852	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:179442852G>A	uc021vsy.1	-	270	60911	c.60686C>T	c.(60685-60687)cCg>cTg	p.P20229L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13924L|TTN_uc021vta.1_Missense_Mutation_p.P13857L|TTN_uc021vtb.1_Missense_Mutation_p.P13732L|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21156	Ig-like 111.						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)			CATCCTTATCGGAGTCTTGTT	0.418												
PTPRN	5798	broad.mit.edu	37	2	220159756	220159756	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:220159756G>A	uc002vkz.3	-	18	2857	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	PTPRN_uc010zlc.2_Silent_p.F782F|PTPRN_uc002vla.3_Silent_p.F843F|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	872	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCAGCTGAGGAAGTGGAACT	0.687												
GSS	2937	broad.mit.edu	37	20	33516696	33516696	+	Missense_Mutation	SNP	T	T	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr20:33516696T>A	uc002xbg.3	-	12	1440	c.1360A>T	c.(1360-1362)Atc>Ttc	p.I454F	GSS_uc010zun.2_Missense_Mutation_p.I326F|GSS_uc010zuo.2_Missense_Mutation_p.I343F|GSS_uc010zup.2_Missense_Mutation_p.I385F	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	454					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCATGCTCGATGGCTTTGGTT	0.562												
MED15	51586	broad.mit.edu	37	22	20939408	20939408	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:20939408G>A	uc002zsp.3	+	15	2065	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	MED15_uc002zsq.3_Missense_Mutation_p.R622Q|MED15_uc010gso.3_Missense_Mutation_p.R605Q|MED15_uc002zsr.3_Missense_Mutation_p.R596Q|MED15_uc011ahs.2_Missense_Mutation_p.R596Q|MED15_uc002zss.3_Missense_Mutation_p.R541Q|MED15_uc011ahu.2_Missense_Mutation_p.R372Q|MED15_uc002zst.3_Missense_Mutation_p.R278Q|MED15_uc002zsu.3_Missense_Mutation_p.R267Q	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	662					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGTGCACCCGGAAGCGCAGG	0.682												
NCAPH2	29781	broad.mit.edu	37	22	50956414	50956414	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:50956414A>G	uc003blx.4	+	5	555	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	NCAPH2_uc003blq.4_Missense_Mutation_p.I145V|NCAPH2_uc003blv.3_Missense_Mutation_p.I145V|NCAPH2_uc003blr.4_Missense_Mutation_p.I145V	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	145					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGTCCTCATCATCCCCCTCCT	0.612												
DLEC1	9940	broad.mit.edu	37	3	38139020	38139020	+	Silent	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:38139020T>C	uc003chp.1	+	16	2478	c.2457T>C	c.(2455-2457)ttT>ttC	p.F819F	DLEC1_uc003cho.1_Silent_p.F819F|DLEC1_uc010hgv.1_Silent_p.F819F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	819					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCGGGGATTTTGAGTTGAACT	0.562												
ATP6V1A	523	broad.mit.edu	37	3	113503555	113503555	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:113503555A>G	uc003eao.3	+	4	547	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	ATP6V1A_uc011bik.2_Missense_Mutation_p.I114V	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	147					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGTAGTCATATCACTGGCGG	0.373												
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:137880741_137880743delTCG	uc003erv.3	-	7	1777_1779	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_uc003eru.3_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.3_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394												
FRYL	285527	broad.mit.edu	37	4	48575256	48575256	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:48575256G>C	uc003gyh.1	-	25	3456	c.2851C>G	c.(2851-2853)Cta>Gta	p.L951V	FRYL_uc003gyk.3_Missense_Mutation_p.L951V	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCTCTATTAGTTCCCTGGAA	0.348												
PITX2	5308	broad.mit.edu	37	4	111539315	111539315	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:111539315C>T	uc003iaf.3	-	6	2743	c.920G>A	c.(919-921)aGt>aAt	p.S307N	PITX2_uc003iac.3_Missense_Mutation_p.S314N|PITX2_uc003iad.3_Missense_Mutation_p.S307N|PITX2_uc021xqr.1_Missense_Mutation_p.S307N|PITX2_uc003iae.3_Missense_Mutation_p.S261N|PITX2_uc021xqs.1_Missense_Mutation_p.S261N	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	307					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGGCAAGCACTCAGGTTGGA	0.632												
FGA	2243	broad.mit.edu	37	4	155508007	155508007	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:155508007C>T	uc003iod.1	-	4	632	c.574G>A	c.(574-576)Gta>Ata	p.V192I	FGA_uc003ioe.1_Missense_Mutation_p.V192I|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	192					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCAGATCTACTTCACGAGCT	0.418												
DNAH5	1767	broad.mit.edu	37	5	13829731	13829731	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:13829731C>T	uc003jfd.2	-	37	6374	c.6332G>A	c.(6331-6333)cGt>cAt	p.R2111H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2111	AAA 1 (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)					GATAATCTGACGGTCAGGCAC	0.463									Kartagener syndrome			
CMYA5	202333	broad.mit.edu	37	5	79030268	79030268	+	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:79030268T>G	uc003kgc.3	+	1	5752	c.5680T>G	c.(5680-5682)Tgg>Ggg	p.W1894G		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1894						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGATGAAAACTGGATGTTGGG	0.423												
ZNF608	57507	broad.mit.edu	37	5	123983427	123983427	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:123983427C>T	uc003ktq.1	-	3	2833	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D884N|ZNF608_uc003ktt.1_Missense_Mutation_p.D884N	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	884						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TAAACCTTATCGGCCTCAGCT	0.532												
PCDHB15	56121	broad.mit.edu	37	5	140625602	140625602	+	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:140625602T>G	uc003lje.3	+	0	456	c.456T>G	c.(454-456)ttT>ttG	p.F152L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	152	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACTGTGTTTCCTCTGAAAA	0.438												
ARHGEF37	389337	broad.mit.edu	37	5	148997790	148997790	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:148997790G>A	uc003lra.1	+	5	774	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	237					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CGGCTGGCCCGCATCAACACA	0.632												
CLINT1	9685	broad.mit.edu	37	5	157232966	157232966	+	Missense_Mutation	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:157232966T>C	uc003lxj.2	-	6	1055	c.850A>G	c.(850-852)Acc>Gcc	p.T284A	CLINT1_uc003lxi.2_Missense_Mutation_p.T266A|CLINT1_uc011ddv.2_Missense_Mutation_p.T284A	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	284					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGATCAATGGTTTTGGAAGGA	0.473												
N4BP3	23138	broad.mit.edu	37	5	177548865	177548865	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:177548865G>A	uc003mik.1	+	4	1745	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	N4BP3_uc003mil.1_Missense_Mutation_p.V169M	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	500						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGGAGCGCGTGCTGCGCTA	0.687												
RASGEF1C	255426	broad.mit.edu	37	5	179555514	179555514	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:179555514G>T	uc003mlq.3	-	3	832	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	RASGEF1C_uc003mlr.3_Missense_Mutation_p.P179T|RASGEF1C_uc003mlp.4_Missense_Mutation_p.P28T	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	179					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGAGATGGGCTTGTCGGCA	0.637												
DST	667	broad.mit.edu	37	6	56342227	56342227	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:56342227G>A	uc003pcy.4	-	71	13830	c.13722C>T	c.(13720-13722)ggC>ggT	p.G4574G		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6986					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAACGGTGTCGCCCATAGTGG	0.458												
ME1	4199	broad.mit.edu	37	6	84056002	84056002	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:84056002A>T	uc003pjy.3	-	4	755	c.490T>A	c.(490-492)Tgt>Agt	p.C164S	ME1_uc011dzb.2_Missense_Mutation_p.C89S|ME1_uc011dzc.2_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	164					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ATTCCATTACAGCCAAGGTCT	0.448												
SAMD9	54809	broad.mit.edu	37	7	92732691	92732691	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:92732691C>A	uc003umf.3	-	2	2990	c.2720G>T	c.(2719-2721)gGg>gTg	p.G907V	SAMD9_uc003umg.3_Missense_Mutation_p.G907V|SAMD9_uc022ahg.1_Missense_Mutation_p.G907V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	907						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATATTCTGCCCTTTCAGGAT	0.333												
AZGP1	563	broad.mit.edu	37	7	99569575	99569575	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:99569575A>T	uc003ush.3	-	1	223	c.131T>A	c.(130-132)gTc>gAc	p.V44D		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	44					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAACGCGGGGACGTCTTCAAC	0.502												
AASS	10157	broad.mit.edu	37	7	121717919	121717920	+	Frame_Shift_Ins	INS	-	-	G	rs147476318	by1000genomes	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:121717919_121717920insG	uc003vka.3	-	21	2730_2731	c.2634_2635insC	c.(2632-2637)accgccfs	p.T878fs	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Frame_Shift_Ins_p.T878fs|AASS_uc011knw.2_Frame_Shift_Ins_p.T366fs	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	878	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.P877P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCTGCCATGGCGGTGGGTAACC	0.460												
IQUB	154865	broad.mit.edu	37	7	123152166	123152166	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:123152166G>T	uc003vkn.3	-	1	806	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	IQUB_uc003vko.3_Missense_Mutation_p.Q77K|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.Q77K|IQUB_uc003vkq.2_Missense_Mutation_p.Q77K	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	77										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCCATGAGTTGTTCATTGTCT	0.413												
FAM71F1	84691	broad.mit.edu	37	7	128370003	128370003	+	Missense_Mutation	SNP	C	C	T	rs140953386	byFrequency	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:128370003C>T	uc003vno.1	+	5	954	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	301										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGTGACCTACGTTGGAGGGC	0.547												
HIPK2	28996	broad.mit.edu	37	7	139416741	139416741	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:139416741C>T	uc003vvf.4	-	1	364	c.93G>A	c.(91-93)ctG>ctA	p.L31L	HIPK2_uc003vvd.4_Silent_p.L31L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	31					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCTCTATTTTCAGTTTCTTCA	0.493												
CNTNAP2	26047	broad.mit.edu	37	7	146829418	146829418	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:146829418C>T	uc003weu.2	+	7	1681	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	389					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R389Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTGCCCGGACGGCTTAACCA	0.468										HNSCC(39;0.1)		
IARS	3376	broad.mit.edu	37	9	95007245	95007246	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:95007245_95007246GC>AA	uc004art.1	-	26	3156_3157	c.2899_2900GC>TT	c.(2899-2901)gct>TTt	p.A967F	IARS_uc004ars.1_Missense_Mutation_p.A812F|IARS_uc004aru.3_Missense_Mutation_p.A967F|IARS_uc010mqr.2_Missense_Mutation_p.A857F|IARS_uc010mqt.2_Missense_Mutation_p.A190F	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	967					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAATACCTGAGCATCTGAGTGT	0.446												
LPAR1	1902	broad.mit.edu	37	9	113703772	113703772	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:113703772C>T	uc011lwo.2	-	1	727	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	LPAR1_uc004bfa.3_Missense_Mutation_p.R241Q|LPAR1_uc011lwm.2_Missense_Mutation_p.R242Q|LPAR1_uc004bfc.3_Missense_Mutation_p.R241Q|LPAR1_uc011lwn.2_Missense_Mutation_p.R223Q|LPAR1_uc004bfb.3_Missense_Mutation_p.R241Q|LPAR1_uc010mub.3_Missense_Mutation_p.R241Q	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	241					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGAACTATGCCGAGACATTCT	0.468												
SUSD1	64420	broad.mit.edu	37	9	114860875	114860875	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:114860875G>T	uc010mui.3	-	9	1390	c.1349C>A	c.(1348-1350)aCg>aAg	p.T450K	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.T450K|SUSD1_uc010muj.3_Missense_Mutation_p.T450K			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	450						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGTTCCCTCGTTGTGAAGTT	0.443												
F9	2158	broad.mit.edu	37	X	138643014	138643014	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138643014G>A	uc004fas.1	+	7	867	c.838_splice	c.e7+1	p.G280_splice	F9_uc004fat.1_Splice_Site_p.G242_splice	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	280	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGTTGTCGCAGGTAAATACAC	0.343												
ATP11C	286410	broad.mit.edu	37	X	138864837	138864837	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138864837A>G	uc004faz.3	-	17	1929	c.1830T>C	c.(1828-1830)gaT>gaC	p.D610D	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.D610D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	610					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTCATAATCATCTGGAG	0.353