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
RBBP4	5928	broad.mit.edu	37	1	33134833	33134833	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:33134833T>G	uc001bvr.3	+	7	921	c.762_splice	c.e7-1	p.I254_splice	RBBP4_uc001bvs.3_Splice_Site_p.I253_splice|RBBP4_uc010ohj.2_Splice_Site_p.I2_splice|RBBP4_uc010ohk.2_Splice_Site_p.I219_splice	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	254					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCACTGAAGTTGGGATACTCG	0.353												
CYP4A11	1579	broad.mit.edu	37	1	47399686	47399686	+	Missense_Mutation	SNP	G	G	A	rs66477740		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:47399686G>A	uc001cqp.4	-	8	1205	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	CYP4A11_uc001cqq.2_Missense_Mutation_p.P385L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	385					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCTGGCACCGGTGGGTAGAG	0.567												
LRP8	7804	broad.mit.edu	37	1	53732253	53732253	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:53732253C>T	uc001cvi.2	-	8	1556	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Missense_Mutation_p.R440Q|LRP8_uc001cvk.2_Missense_Mutation_p.R270Q|LRP8_uc001cvl.2_Missense_Mutation_p.R311Q|LRP8_uc001cvm.1_Missense_Mutation_p.R25Q	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	440					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGAATAGTTCCGCTTCACCAG	0.537												
FLG	2312	broad.mit.edu	37	1	152285273	152285273	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152285273G>T	uc001ezu.1	-	2	2125	c.2089C>A	c.(2089-2091)Cat>Aat	p.H697N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	697	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)			GCCTGTTCATGGGATGACGCA	0.557									Ichthyosis			
LCE1F	353137	broad.mit.edu	37	1	152748961	152748961	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152748961T>C	uc010pdv.2	+	0	114	c.114T>C	c.(112-114)ccT>ccC	p.P38P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	38	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctaagtgccctccTGTCTCTT	0.672												
RRNAD1	51093	broad.mit.edu	37	1	156702252	156702252	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:156702252G>A	uc001fpu.3	+	2	1050	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	RRNAD1_uc001fpv.3_Missense_Mutation_p.R139Q	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	139						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CATGAGATCCGGAGGCTGGGA	0.562												
KIRREL	55243	broad.mit.edu	37	1	158063228	158063228	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:158063228G>A	uc001frn.4	+	11	1975	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	KIRREL_uc010pib.2_Missense_Mutation_p.R424H|KIRREL_uc009wsq.3_Missense_Mutation_p.R360H|KIRREL_uc001fro.4_Missense_Mutation_p.R338H	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	524						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACCGGCGCCGCAAAGGCAGT	0.607												
USH2A	7399	broad.mit.edu	37	1	215814045	215814045	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:215814045G>A	uc001hku.1	-	67	15210	c.14823C>T	c.(14821-14823)gaC>gaT	p.D4941D		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4941	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAAATTGCTGTCCACCGAAA	0.507										HNSCC(13;0.011)		
LYST	1130	broad.mit.edu	37	1	235969724	235969724	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:235969724C>T	uc001hxj.2	-	5	2887	c.2712G>A	c.(2710-2712)gtG>gtA	p.V904V	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.V904V	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	904					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATAAAAAAGCCACACAGAGGA	0.428												
RTKN2	219790	broad.mit.edu	37	10	63957964	63957964	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:63957964T>C	uc001jlw.3	-	11	1630	c.1533A>G	c.(1531-1533)aaA>aaG	p.K511K	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.K165K	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	511					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGAATGGAAGTTTATCAGAAG	0.398												
PTEN	5728	broad.mit.edu	37	10	89720827	89720831	+	Frame_Shift_Del	DEL	CAAAG	CAAAG	-			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:89720827_89720831delCAAAG	uc001kfb.3	+	7	2010_2014	c.978_982delCAAAG	c.(976-984)gacaaagcafs	p.D326fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	326	C2 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.R55fs*1(5)|p.T319_K332del(2)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D326fs*4(2)|p.W274_F341del(2)|p.A328fs*1(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)|p.L325H(1)|p.L325V(1)|p.L325P(1)|p.L325R(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)		ATGATCTTGACAAAGCAAATAAAGA	0.337		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)		
OR10A3	26496	broad.mit.edu	37	11	7960190	7960190	+	Missense_Mutation	SNP	C	C	T	rs146552050		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:7960190C>T	uc010rbi.2	-	0	878	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTGTTTCGTAAGCTATA	0.418												
TRIM51	84767	broad.mit.edu	37	11	55653196	55653197	+	Missense_Mutation	DNP	GA	GA	TC			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55653196_55653197GA>TC	uc010rip.2	+	1	384_385	c.292_293GA>TC	c.(292-294)gag>TCg	p.E98S	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	98						intracellular	zinc ion binding										GATGCACAGAGAGACAAAGAAG	0.485												
TRIM51	84767	broad.mit.edu	37	11	55658647	55658647	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55658647A>T	uc010rip.2	+	6	990	c.898A>T	c.(898-900)Atc>Ttc	p.I300F	TRIM51_uc010riq.2_Missense_Mutation_p.I157F	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	300	B30.2/SPRY.					intracellular	zinc ion binding										CAATAGTCATATCTTCCTGTG	0.348												
TRIM51	84767	broad.mit.edu	37	11	55658914	55658914	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55658914T>A	uc010rip.2	+	6	1257	c.1165T>A	c.(1165-1167)Tgc>Agc	p.C389S	TRIM51_uc010riq.2_Missense_Mutation_p.C246S	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	389	B30.2/SPRY.					intracellular	zinc ion binding										GGACACTCACTGCAGTCTCTT	0.448												
OR8J3	81168	broad.mit.edu	37	11	55904831	55904831	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55904831G>A	uc010riz.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCCACATAGCGGTCATAGGCC	0.502												
OR5A1	219982	broad.mit.edu	37	11	59210873	59210873	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:59210873T>C	uc001nnx.1	+	0	232	c.232T>C	c.(232-234)Tct>Cct	p.S78P		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTGCTACTCTTCTGCTGTGGC	0.468												
CDC42BPG	55561	broad.mit.edu	37	11	64607007	64607007	+	Silent	SNP	G	G	A	rs141134240	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:64607007G>A	uc001obs.4	-	5	618	c.618C>T	c.(616-618)aaC>aaT	p.N206N		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	206	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GAATGTGCCCGTTCACATCCA	0.607												
UVRAG	7405	broad.mit.edu	37	11	75718654	75718654	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:75718654C>G	uc001oxc.3	+	9	1229	c.988C>G	c.(988-990)Cct>Gct	p.P330A	UVRAG_uc010rrw.2_Missense_Mutation_p.P229A|UVRAG_uc001oxd.3_5'UTR|UVRAG_uc010rrx.2_5'UTR|UVRAG_uc009yuh.1_Non-coding_Transcript	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	330					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTACATTTACCCTATTGATTT	0.318												
SMAGP	57228	broad.mit.edu	37	12	51663060	51663060	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr12:51663060C>G	uc001ryd.1	-	1	193	c.3G>C	c.(1-3)atG>atC	p.M1I	SMAGP_uc001rye.1_Missense_Mutation_p.M1I|SMAGP_uc001ryf.1_Non-coding_Transcript	NM_001033873	NP_001029045	Q0VAQ4	SMAGP_HUMAN	Homo sapiens small cell adhesion glycoprotein (SMAGP), transcript variant 2, mRNA.	1						cytoplasmic vesicle membrane|integral to membrane|plasma membrane											GGAGGCTGGTCATTGTCACTA	0.512												
RNF17	56163	broad.mit.edu	37	13	25367336	25367336	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:25367336T>C	uc001upr.3	+	9	1133	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P	RNF17_uc010tdd.1_Silent_p.P223P|RNF17_uc010tde.2_Silent_p.P364P|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.P303P|RNF17_uc001upq.1_Silent_p.P364P	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	364					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTTGCAACCTGAGACAAATG	0.428												
TRPC4	7223	broad.mit.edu	37	13	38237609	38237609	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:38237609C>T	uc010abx.3	-	5	1867	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	TRPC4_uc010abv.3_Silent_p.T124T|TRPC4_uc001uwt.3_Silent_p.T544T|TRPC4_uc001uws.3_Silent_p.T544T|TRPC4_uc010tey.2_Silent_p.T544T|TRPC4_uc010abw.3_Silent_p.T371T|TRPC4_uc010aby.3_Silent_p.T544T	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	544					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTAACCCTTTCGTTTCTTCAT	0.348												
COL4A1	1282	broad.mit.edu	37	13	110855947	110855947	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:110855947T>C	uc001vqw.4	-	17	1087	c.965A>G	c.(964-966)aAg>aGg	p.K322R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	322	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGCTTCACCCTTTTCTCCCTA	0.453												
MAP3K9	4293	broad.mit.edu	37	14	71209191	71209191	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr14:71209191G>A	uc001xmm.3	-	5	1444	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	MAP3K9_uc010ttk.2_Missense_Mutation_p.R219W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R176W|MAP3K9_uc001xml.3_Missense_Mutation_p.R482W	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	482	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGAGCTCCCGTTCCAGGATG	0.617												
EPB42	2038	broad.mit.edu	37	15	43499445	43499445	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:43499445C>A	uc001zrb.4	-	8	1660	c.1360G>T	c.(1360-1362)Ggc>Tgc	p.G454C	EPB42_uc001zqz.4_Missense_Mutation_p.G91C|EPB42_uc001zra.4_Missense_Mutation_p.G424C|EPB42_uc010udm.2_Missense_Mutation_p.G346C	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	424					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CGGTCACTGCCCACACCCTTG	0.552												
SMAD3	4088	broad.mit.edu	37	15	67457245	67457245	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:67457245C>T	uc002aqj.3	+	1	517	c.219C>T	c.(217-219)ggC>ggT	p.G73G	SMAD3_uc010ujr.2_5'UTR|SMAD3_uc010ujs.2_Silent_p.G29G|SMAD3_uc010ujt.2_5'Flank	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	73	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCCTGGATGGCCGGTTGCAGG	0.612												
CACNA1G	8913	broad.mit.edu	37	17	48697121	48697121	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr17:48697121G>A	uc002irk.1	+	33	6231	c.5859G>A	c.(5857-5859)ctG>ctA	p.L1953L	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Silent_p.L1919L|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Silent_p.L1953L|CACNA1G_uc002irq.1_Silent_p.L1930L|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Silent_p.L1942L|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Silent_p.L1919L|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Silent_p.L1855L|CACNA1G_uc002ise.1_Silent_p.L1821L|CACNA1G_uc002isf.1_Silent_p.L1848L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1953					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGACGAGCTGGCAGGCCCAG	0.667												
CTIF	9811	broad.mit.edu	37	18	46385757	46385757	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr18:46385757A>G	uc002ldd.3	+	12	1989	c.1630A>G	c.(1630-1632)Atg>Gtg	p.M544V	CTIF_uc002ldc.3_Missense_Mutation_p.M542V|CTIF_uc002lde.4_Missense_Mutation_p.M171V	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	542	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCTGCCTGAGATGATGACAGA	0.637												
DNMT1	1786	broad.mit.edu	37	19	10254528	10254528	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:10254528G>A	uc002mng.3	-	27	3162	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G	DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Silent_p.G1010G|DNMT1_uc002mnh.3_Silent_p.G889G|DNMT1_uc010xld.2_Silent_p.G994G	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	994	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTTTGATCCGGCCAATTCGGT	0.542												
CRLF1	9244	broad.mit.edu	37	19	18710416	18710416	+	Missense_Mutation	SNP	C	C	T	rs146027258	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:18710416C>T	uc010ebt.2	-	1	550	c.356G>A	c.(355-357)cGt>cAt	p.R119H		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	119	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	p.R119H(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCTGCCGTCACGGGCGTGGCA	0.652												
FOSB	2354	broad.mit.edu	37	19	45973902	45973902	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:45973902G>A	uc002pbx.4	+	1	734	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.G48R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.G48R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G48R|FOSB_uc010eke.3_Intron|FOSB_uc002pby.4_Missense_Mutation_p.G48R|FOSB_uc010ekf.3_Intron|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_5'UTR	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	48					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGCCGGTCTCGGGGAAATGCC	0.582												
PNMAL2	57469	broad.mit.edu	37	19	46997949	46997949	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:46997949G>A	uc002pes.2	-	0	1221	c.774C>T	c.(772-774)acC>acT	p.T258T	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Silent_p.T20T	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	258										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGTCGGTGACGGTGACCAGAG	0.602												
DHX34	9704	broad.mit.edu	37	19	47883014	47883014	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:47883014C>T	uc010xyn.2	+	13	3103	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	DHX34_uc010xyo.1_Silent_p.S47S	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	918						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTGACTGCTCCCGCCTGGTGG	0.627												
MTA3	57504	broad.mit.edu	37	2	42883411	42883411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:42883411C>T	uc002rso.1	+	7	1073	c.403C>T	c.(403-405)Cga>Tga	p.R135*	MTA3_uc002rsp.1_Nonsense_Mutation_p.R135*|MTA3_uc002rsq.3_Nonsense_Mutation_p.R191*	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	191	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V135V(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ACTTACGGATCGACAGATTGA	0.328												
REV1	51455	broad.mit.edu	37	2	100024503	100024507	+	Frame_Shift_Del	DEL	TGATA	TGATA	-			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:100024503_100024507delTGATA	uc002tad.3	-	14	2644_2648	c.2432_2436delTATCA	c.(2431-2436)atatcafs	p.I811fs	REV1_uc002tac.3_Frame_Shift_Del_p.I810fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	811					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.I811M(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCATATCTGATATATTTAGTTT	0.346								Direct reversal of damage				
SEPT10	151011	broad.mit.edu	37	2	110303622	110303625	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:110303622_110303625delCTTA	uc002tey.3	-	10	1728	c.1349_splice	c.e10+1	p.K450_splice	SEPT10_uc010ywu.1_Stop_Codon_Del|SEPT10_uc002tew.3_Splice_Site_p.N450_splice|SEPT10_uc002tex.3_Splice_Site_p.N427_splice|SEPT10_uc010ywv.2_Splice_Site_p.N316_splice|SEPT10_uc002tev.1_Stop_Codon_Del|SEPT10_uc010fjo.3_Splice_Site	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCTGGGCCTCTTACTTCTTACGG	0.505											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
POTEF	728378	broad.mit.edu	37	2	130877828	130877828	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:130877828G>T	uc010fmh.2	-	2	661	c.261C>A	c.(259-261)gaC>gaA	p.D87E		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	87						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TAGCAGAGTCGTCGTGGTCTC	0.612												
ITGAV	3685	broad.mit.edu	37	2	187506166	187506166	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:187506166G>A	uc002upq.3	+	11	1286	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	ITGAV_uc010frs.3_Missense_Mutation_p.G301D|ITGAV_uc010zfv.2_Missense_Mutation_p.G291D	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	337					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GGCTCTGATGGCAAACTCCAA	0.458												
SGOL2	151246	broad.mit.edu	37	2	201437521	201437521	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:201437521A>G	uc002uvw.2	+	6	2565	c.2452A>G	c.(2452-2454)Ata>Gta	p.I818V	SGOL2_uc010zhd.1_Missense_Mutation_p.I818V|SGOL2_uc010zhe.1_Missense_Mutation_p.I818V	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	818					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						AAAGTCAGAAATAATTCCTGA	0.348												
GPBAR1	151306	broad.mit.edu	37	2	219127776	219127776	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:219127776G>A	uc021vwu.1	+	0	329	c.329G>A	c.(328-330)cGc>cAc	p.R110H	GPBAR1_uc010zjx.1_Missense_Mutation_p.R110H|GPBAR1_uc010zjw.1_Missense_Mutation_p.R110H|GPBAR1_uc010zjy.1_Missense_Mutation_p.R110H	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN	Homo sapiens G protein-coupled bile acid receptor 1 (GPBAR1), transcript variant 3, mRNA.	110						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACGGGGAGCGCTACATGGCA	0.647												
FGFR3	2261	broad.mit.edu	37	4	1807889	1807889	+	Missense_Mutation	SNP	A	A	G	rs78311289		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:1807889A>G	uc003gdr.3	+	13	2204	c.1948A>G	c.(1948-1950)Aag>Gag	p.K650E	FGFR3_uc003gdu.2_Missense_Mutation_p.K652E|FGFR3_uc003gds.3_Missense_Mutation_p.K538E|FGFR3_uc003gdq.3_Missense_Mutation_p.K651E	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	650	Protein kinase.		K -> E (in KERSEB, TD2 and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation).|K -> M (in KERSEB, ACH and TD1).|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.K650E(121)|p.K650M(81)|p.K650Q(10)|p.K650T(5)|p.K650N(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTACTACAAGAAGACGACCAA	0.667		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome			
BANK1	55024	broad.mit.edu	37	4	102984233	102984233	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:102984233A>C	uc003hvy.4	+	13	2423	c.2149_splice	c.e13-1	p.E717_splice	BANK1_uc003hvx.4_Splice_Site_p.E702_splice|BANK1_uc010ill.3_Splice_Site_p.E584_splice|BANK1_uc003hvz.4_Splice_Site_p.E687_splice	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	717					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CACATTAAGGAGAAATTACGA	0.333												
NDST4	64579	broad.mit.edu	37	4	115792048	115792048	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:115792048G>C	uc003ibu.3	-	6	2274	c.1595C>G	c.(1594-1596)aCc>aGc	p.T532S	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	532	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTTCACAAAGGTATATAACCC	0.403												
NDST3	9348	broad.mit.edu	37	4	118975673	118975673	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:118975673G>A	uc003ibx.3	+	1	1011	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NDST3_uc011cgf.1_Missense_Mutation_p.R203H|NDST3_uc003ibw.3_Missense_Mutation_p.R203H	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	203	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358												
ASB5	140458	broad.mit.edu	37	4	177190191	177190191	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:177190191C>T	uc003iuq.2	-	0	183	c.69G>A	c.(67-69)tcG>tcA	p.S23S		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	23					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AACAGAACAGCGAAAGTATTG	0.433												
PCDHAC2	56145	broad.mit.edu	37	5	140182149	140182149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140182149C>T	uc003lhf.2	+	0	1367	c.1367C>T	c.(1366-1368)tCg>tTg	p.S456L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S456L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	470	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S456L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCATTCTCGCAGTCCGAG	0.672												
PCDHB13	56123	broad.mit.edu	37	5	140595338	140595338	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140595338G>A	uc003lja.1	+	0	1830	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	548	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTGGTGGTG	0.716												
PRPF4B	8899	broad.mit.edu	37	6	4042762	4042762	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:4042762T>C	uc003mvv.3	+	4	1701	c.1610T>C	c.(1609-1611)cTa>cCa	p.L537P	PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	537						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAAGAAGCCCTAATAGAACAG	0.313												
OR2H1	26716	broad.mit.edu	37	6	29430141	29430141	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:29430141G>C	uc003nmi.3	+	2	1038	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	OR2H1_uc003nmj.1_Missense_Mutation_p.V199L|OR2H1_uc010jri.2_Missense_Mutation_p.V121L|OR2H1_uc021ytr.1_Missense_Mutation_p.V199L	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CCAGTTGGCTGTGTCCAGTGT	0.512												
DST	667	broad.mit.edu	37	6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:56566691G>A	uc021zay.1	-	4	562	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	106	Actin-binding.				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	p.E146K(1)		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)			CATACCTGGCGTCTTTTCAAA	0.343												
SASH1	23328	broad.mit.edu	37	6	148854037	148854037	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:148854037G>A	uc003qme.1	+	13	2144	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R	SASH1_uc011eeb.1_Missense_Mutation_p.G318R|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	557	SH3.						protein binding	p.G557R(2)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCGTTCTGCGGGCGTGCCAG	0.582												
GRM3	2913	broad.mit.edu	37	7	86415679	86415679	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:86415679G>A	uc003uid.3	+	2	1670	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	GRM3_uc010lef.3_Missense_Mutation_p.V189M|GRM3_uc010leg.3_Missense_Mutation_p.V63M|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCCAGGACCGTGCCCCCCGA	0.567												
MUC17	140453	broad.mit.edu	37	7	100678176	100678176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:100678176C>G	uc003uxp.1	+	2	3532	c.3479C>G	c.(3478-3480)aCt>aGt	p.T1160S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1160	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAACCACTCCGTTAGCA	0.522												
PTPRZ1	5803	broad.mit.edu	37	7	121636615	121636615	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:121636615G>C	uc003vjy.3	+	8	1503	c.1108G>C	c.(1108-1110)Gac>Cac	p.D370H	PTPRZ1_uc011knt.2_Missense_Mutation_p.D370H|PTPRZ1_uc003vjz.3_Missense_Mutation_p.D370H	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	370	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGCTATCAAGACTTGGTAAC	0.338												
EPHB6	2051	broad.mit.edu	37	7	142562429	142562430	+	Missense_Mutation	DNP	AA	AA	CC			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:142562429_142562430AA>CC	uc011kst.2	+	6	1658_1659	c.871_872AA>CC	c.(871-873)aag>CCg	p.K291P	EPHB6_uc011ksu.2_Missense_Mutation_p.K291P|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	291	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGGGAGGGCAAGTGGATGGTA	0.653												
SLCO5A1	81796	broad.mit.edu	37	8	70594493	70594493	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr8:70594493A>T	uc003xyl.3	-	6	2415	c.1708T>A	c.(1708-1710)Tgt>Agt	p.C570S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.C515S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.C570S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	570	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGATCCACAGACTGGCTCA	0.428												
C9orf66	157983	broad.mit.edu	37	9	214614	214614	+	Silent	SNP	G	G	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:214614G>T	uc003zge.4	-	0	1280	c.783C>A	c.(781-783)ggC>ggA	p.G261G	DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.	261	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAGCTTCCGGCCTGCGCGCA	0.711												
SVEP1	79987	broad.mit.edu	37	9	113169426	113169426	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:113169426G>C	uc010mtz.3	-	37	8791	c.8454C>G	c.(8452-8454)gaC>gaG	p.D2818E	SVEP1_uc010mty.3_Missense_Mutation_p.D744E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2818	Sushi 23.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCAGTTTTTGTCATCCTGGC	0.512												
AK8	158067	broad.mit.edu	37	9	135702270	135702270	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:135702270T>G	uc004cbu.1	-	7	1284	c.728A>C	c.(727-729)gAc>gCc	p.D243A	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Missense_Mutation_p.D39A	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	243						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.D243A(6)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ACATGGCTGGTCAGCACTGAT	0.557												
ARMCX5-GPRASP2	114928	broad.mit.edu	37	X	101972203	101972203	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chrX:101972203T>C	uc022cbh.1	+	0	2406	c.2406T>C	c.(2404-2406)gaT>gaC	p.D802D	ARMCX5-GPRASP2_uc022cay.1_Silent_p.D802D|ARMCX5-GPRASP2_uc022cbe.1_Silent_p.D802D|ARMCX5-GPRASP2_uc004ejl.3_Silent_p.D802D|ARMCX5-GPRASP2_uc022cbf.1_Silent_p.D802D|ARMCX5-GPRASP2_uc022cbg.1_Silent_p.D802D|ARMCX5-GPRASP2_uc004ejm.3_Silent_p.D802D|ARMCX5-GPRASP2_uc004ejk.3_Silent_p.D802D	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	802						cytoplasm	protein binding										TTGATGATGATTTCAGTCTTG	0.333												
