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
ABCA4	24	broad.mit.edu	37	1	94512564	94512564	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:94512564C>T	uc001dqh.3	-	18	2933	c.2829G>A	c.(2827-2829)cgG>cgA	p.R943R	ABCA4_uc010otn.1_Silent_p.R869R	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	943	ABC transporter 1.		R -> Q (in linkage disequilibrium with A- 863 in the European population; dbSNP:rs1801581).|R -> W (in STGD1 and FFM).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGCTGGCCGGCCACAGG	0.522												
PSMD4	5710	broad.mit.edu	37	1	151237667	151237667	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:151237667A>G	uc001exl.3	+	4	457	c.395A>G	c.(394-396)aAg>aGg	p.K132R		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	132	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAACGCCTCAAGAAGGAGAAA	0.453												
XCL1	6375	broad.mit.edu	37	1	168549318	168549318	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:168549318T>G	uc001gfo.2	+	1	244	c.79T>G	c.(79-81)Tca>Gca	p.S27A		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	27					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGTGAAGTCTCAGATAAGAG	0.433												
PRG4	10216	broad.mit.edu	37	1	186276567	186276567	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:186276567C>T	uc001gru.4	+	6	1767	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T531T|PRG4_uc009wyl.3_Silent_p.T479T|PRG4_uc009wym.3_Silent_p.T438T|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T572A(1)|p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGAAGC	0.642												
HHIPL2	79802	broad.mit.edu	37	1	222717273	222717273	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:222717273G>C	uc001hnh.1	-	1	638	c.580C>G	c.(580-582)Ctg>Gtg	p.L194V		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	194					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ACCATGCCCAGGTGGCGGTTG	0.607												
PTEN	5728	broad.mit.edu	37	10	89653826	89653826	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:89653826C>G	uc001kfb.3	+	1	1156	c.124C>G	c.(124-126)Ctt>Gtt	p.L42V	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	42	Phosphatase tensin-type.		L -> R (in glioma; retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		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.?(8)|p.L42R(6)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L42P(1)|p.R41fs*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)		TGCAGAAAGACTTGAAGGCGT	0.294		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)		
SLC18A2	6571	broad.mit.edu	37	10	119014867	119014867	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:119014867C>T	uc001ldd.2	+	6	943	c.780C>T	c.(778-780)ctC>ctT	p.L260L	SLC18A2_uc009xyy.2_Silent_p.L57L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	260					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCCTGGTACTCTTGGATGGAG	0.627												
OR51E1	143503	broad.mit.edu	37	11	4673967	4673967	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:4673967G>C	uc021qcq.1	+	0	211	c.211G>C	c.(211-213)Ggc>Cgc	p.G71R	OR51E1_uc001lzi.4_Missense_Mutation_p.G71R	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGCTTTCAGGCATTGACAT	0.453												
OR4B1	119765	broad.mit.edu	37	11	48238725	48238725	+	Missense_Mutation	SNP	G	G	A	rs150231573	byFrequency	TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:48238725G>A	uc010rhs.2	+	0	364	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGATTGCTACGTGGCCATTTG	0.473												
MS4A14	84689	broad.mit.edu	37	11	60164081	60164081	+	Silent	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:60164081A>T	uc001npj.3	+	0	595	c.30A>T	c.(28-30)gcA>gcT	p.A10A	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Silent_p.A10A|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	10						integral to membrane	receptor activity	p.A10D(2)|p.A10A(2)|p.A10E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAGAAGGGCAACTCACGTCA	0.458												
P2RY2	5029	broad.mit.edu	37	11	72946285	72946285	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:72946285C>T	uc021qna.1	+	0	1081	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	P2RY2_uc001otk.3_Missense_Mutation_p.R361W|P2RY2_uc001otj.3_Missense_Mutation_p.R361W|P2RY2_uc001otl.3_Missense_Mutation_p.R361W	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	361					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R361P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGACTCTAGGCGGACAGAGTC	0.582												
GDPD5	81544	broad.mit.edu	37	11	75160035	75160035	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:75160035C>T	uc001owo.4	-	9	1238	c.701G>A	c.(700-702)cGc>cAc	p.R234H	GDPD5_uc001owp.4_Missense_Mutation_p.R234H|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Missense_Mutation_p.R96H|GDPD5_uc009yud.3_Missense_Mutation_p.R115H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	234	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.R234H(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGGGGCCCCGCGGTGGCCAAT	0.607												
USP35	57558	broad.mit.edu	37	11	77920718	77920718	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:77920718G>A	uc021qny.1	+	9	2173	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	USP35_uc001oze.2_Missense_Mutation_p.C362Y|USP35_uc001ozc.3_Missense_Mutation_p.C174Y|USP35_uc010rsp.2_Missense_Mutation_p.C38Y|USP35_uc001ozd.3_Missense_Mutation_p.C217Y|USP35_uc001ozf.3_Missense_Mutation_p.C337Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	606					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTGAGCGCTGTCGCCGCCGC	0.657												
HEPHL1	341208	broad.mit.edu	37	11	93803618	93803618	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:93803618G>A	uc001pep.2	+	5	1299	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	381	Plastocyanin-like 3.		R -> C (in dbSNP:rs12291622).		copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAACAGAGGCGCTACTTTATA	0.443												
FUT4	2526	broad.mit.edu	37	11	94278241	94278244	+	Frame_Shift_Del	DEL	CAAC	CAAC	-			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:94278241_94278244delCAAC	uc001pez.3	+	0	1225_1228	c.942_945delCAAC	c.(940-945)ttcaacfs	p.F314fs	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	314					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTAACCTCTTCAACTGGACGCTCT	0.681												
SOX5	6660	broad.mit.edu	37	12	24048786	24048786	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:24048786A>G	uc001rfw.3	-	1	313	c.211T>C	c.(211-213)Tct>Cct	p.S71P	SOX5_uc001rfx.3_Missense_Mutation_p.S58P|SOX5_uc001rfy.3_Missense_Mutation_p.S58P|SOX5_uc010siv.2_Missense_Mutation_p.S58P|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.3_Intron	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	71					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTCAGCAGAGAAACTGGCTGA	0.483												
OR8S1	341568	broad.mit.edu	37	12	48919470	48919470	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:48919470C>T	uc010slu.2	+	0	56	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGGCTGTCTGCCGACCCCAAC	0.512												
ADCY6	112	broad.mit.edu	37	12	49177053	49177053	+	Silent	SNP	G	G	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177053G>T	uc001rsh.4	-	0	825	c.165C>A	c.(163-165)ccC>ccA	p.P55P	ADCY6_uc001rsi.4_Silent_p.P55P|ADCY6_uc001rsj.4_Silent_p.P55P	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	55					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.P55A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCGCAGGGGTGGGGCTGGGTG	0.726												
ADCY6	112	broad.mit.edu	37	12	49177063	49177063	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177063G>A	uc001rsh.4	-	0	815	c.155C>T	c.(154-156)cCa>cTa	p.P52L	ADCY6_uc001rsi.4_Missense_Mutation_p.P52L|ADCY6_uc001rsj.4_Missense_Mutation_p.P52L	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	52					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGGGCTGGGTGGCTCTGCATC	0.716												
CEP290	80184	broad.mit.edu	37	12	88505570	88505570	+	Silent	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:88505570A>G	uc001tar.3	-	20	2462	c.2118T>C	c.(2116-2118)gaT>gaC	p.D706D	CEP290_uc001tat.3_Silent_p.D499D|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	706					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGGTAAGCTGATCAACTTGGG	0.368												
ARL1	400	broad.mit.edu	37	12	101796696	101796696	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:101796696C>T	uc001tib.3	-	2	320	c.171G>A	c.(169-171)acG>acA	p.T57T	ARL1_uc010svn.2_Silent_p.T11T|ARL1_uc010svo.2_Non-coding_Transcript	NM_001177	NP_001168	P40616	ARL1_HUMAN	Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.	57					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	p.T57T(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GGTTTTTGTACGTCACCGTCT	0.358												
SACS	26278	broad.mit.edu	37	13	23911703	23911703	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr13:23911703C>T	uc001uon.2	-	9	6901	c.6312G>A	c.(6310-6312)ggG>ggA	p.G2104G	SACS_uc001uoo.2_Silent_p.G1957G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2104					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.Q2104E(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAAAGGATGCCCCTCCAAGG	0.403												
HEATR5A	25938	broad.mit.edu	37	14	31816973	31816973	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:31816973C>T	uc001wrf.4	-	18	3034	c.2849G>A	c.(2848-2850)aGc>aAc	p.S950N	HEATR5A_uc010ami.3_Missense_Mutation_p.S555N|HEATR5A_uc001wrg.1_Missense_Mutation_p.S539N|HEATR5A_uc010tpk.1_Missense_Mutation_p.S950N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	944							binding			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)		AGGAGAAGTGCTGTCCTGCGC	0.383												
GPR132	29933	broad.mit.edu	37	14	105518249	105518249	+	Silent	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:105518249G>A	uc001yqd.3	-	3	1124	c.225C>T	c.(223-225)aaC>aaT	p.N75N	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Silent_p.N66N	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	75					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGGCCAGCACGTTGCCCTGCA	0.647												
C15orf55	256646	broad.mit.edu	37	15	34640826	34640826	+	Missense_Mutation	SNP	C	C	T	rs138533937		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:34640826C>T	uc010ucc.2	+	2	1139	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	C15orf55_uc010ucd.2_Missense_Mutation_p.R243W|C15orf55_uc001zif.3_Missense_Mutation_p.R225W	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	225						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGCCTTGGCCCGGAGGCACCT	0.483			T	"""BRD3, BRD4"""	lethal midline carcinoma							
TRPM7	54822	broad.mit.edu	37	15	50935595	50935595	+	Silent	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:50935595A>G	uc001zyt.4	-	4	759	c.477T>C	c.(475-477)ggT>ggC	p.G159G	TRPM7_uc010bew.2_Silent_p.G159G	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	159					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTTTAATAAGACCTTTTCCAA	0.383												
KIF7	374654	broad.mit.edu	37	15	90189143	90189143	+	Missense_Mutation	SNP	G	G	A	rs150543610		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:90189143G>A	uc002bof.2	-	7	1980	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	KIF7_uc010upw.1_Missense_Mutation_p.R122W	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	635					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTAAGGTCCGCCTGGGCGGc	0.652												
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652												
UMOD	7369	broad.mit.edu	37	16	20357616	20357616	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr16:20357616A>T	uc002dhb.3	-	5	1242	c.1113T>A	c.(1111-1113)aaT>aaA	p.N371K	UMOD_uc002dgz.3_Missense_Mutation_p.N338K|UMOD_uc002dha.3_Missense_Mutation_p.N338K	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	338	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCTTCATGTCATTGGCCCCAC	0.557												
CSDAP1	440359	broad.mit.edu	37	16	31580425	31580425	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr16:31580425G>A	uc010vfr.1	-	0	421	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C						Homo sapiens cold shock domain protein A pseudogene 1 (CSDAP1), non-coding RNA.																		CCTACACTGCGCAGATATTTC	0.438												
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	rs67185453		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7577535C>A	uc002gim.2	-	6	940	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.3_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(565)|p.R248W(513)|p.R249S(326)|p.R248L(70)|p.R249M(69)|p.R249K(36)|p.R249T(32)|p.R249W(31)|p.R249G(28)|p.R248P(16)|p.R248G(12)|p.R249fs*96(10)|p.R248R(10)|p.0?(8)|p.R249R(6)|p.?(5)|p.M246_P250delMNRRP(4)|p.R249fs*14(3)|p.N247_P250delNRRP(2)|p.R249_I251delRPI(2)|p.N247_R248>KW(2)|p.R249_P250delRP(2)|p.N247_R248delNR(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248fs*97(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250insR(1)|p.R248Y(1)|p.R248C(1)|p.N247_R248>IP(1)|p.R249_P250>SS(1)|p.R248fs*16(1)|p.R249fs*15(1)|p.R249fs*19(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGATGGGCCTCCGGTTCAT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
CHD3	1107	broad.mit.edu	37	17	7811263	7811263	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7811263G>A	uc002gjd.2	+	33	5257	c.5255G>A	c.(5254-5256)cGg>cAg	p.R1752Q	CHD3_uc002gje.2_Missense_Mutation_p.R1693Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1659Q|CHD3_uc002gjh.2_Missense_Mutation_p.R270Q|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1693	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GATGAGCCACGGTCCAATGGG	0.567												
MYH2	4620	broad.mit.edu	37	17	10428377	10428377	+	Silent	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:10428377A>G	uc010coi.3	-	33	4796	c.4668T>C	c.(4666-4668)tcT>tcC	p.S1556S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.S1556S|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1556					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGTTCAAGAGATGCCTTAA	0.388												
ABCA8	10351	broad.mit.edu	37	17	66924136	66924136	+	Silent	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:66924136A>T	uc002jhq.3	-	9	1534	c.1194T>A	c.(1192-1194)atT>atA	p.I398I	ABCA8_uc002jhp.3_Silent_p.I398I|ABCA8_uc010wqq.2_Silent_p.I398I|ABCA8_uc010wqr.2_Silent_p.I337I|ABCA8_uc002jhr.3_Silent_p.I398I	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	398						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGTTGCTACAATGAGATTTG	0.328												
DSG3	1830	broad.mit.edu	37	18	29052349	29052349	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr18:29052349A>G	uc002kws.3	+	12	2109	c.2000A>G	c.(1999-2001)cAt>cGt	p.H667R	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	667					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAACAATTCATCAGTGGGGA	0.448												
ZFR2	23217	broad.mit.edu	37	19	3823274	3823274	+	Silent	SNP	C	C	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:3823274C>A	uc002lyw.2	-	7	1353	c.1341G>T	c.(1339-1341)gcG>gcT	p.A447A	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	447						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)		CCACCGGCTGCGCATCAGAGC	0.622												
RFX1	5989	broad.mit.edu	37	19	14079442	14079442	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:14079442C>T	uc002mxv.3	-	11	1939	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	556					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGCTGCTGCCCCACCGCCAC	0.662												
CPAMD8	27151	broad.mit.edu	37	19	17013524	17013524	+	Silent	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:17013524G>A	uc002nfb.3	-	34	4793	c.4761C>T	c.(4759-4761)gaC>gaT	p.D1587D	CPAMD8_uc002nfd.1_Silent_p.D52D	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1540						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTCATCATCGTCAGCTGGGG	0.662												
CEACAM20	125931	broad.mit.edu	37	19	45021085	45021085	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:45021085C>T	uc010ejn.1	-	5	1247	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	CEACAM20_uc010ejo.1_Missense_Mutation_p.D411N|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	411	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TAGATCCCGTCGTGTTCCCAG	0.592												
VN1R2	317701	broad.mit.edu	37	19	53761868	53761868	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:53761868C>T	uc002qbi.2	+	0	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	80					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458												
GPN1	11321	broad.mit.edu	37	2	27861753	27861753	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:27861753C>T	uc010ymc.2	+	9	634	c.613_splice	c.e9-1	p.T205_splice	GPN1_uc010ezf.3_Splice_Site_p.T179_splice|GPN1_uc010yma.2_Splice_Site_p.T112_splice|GPN1_uc010ymb.2_Splice_Site_p.T96_splice|GPN1_uc010ymd.2_Splice_Site_p.T86_splice|GPN1_uc010ezg.1_Splice_Site_p.T86_splice	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	191						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CTGGTACAGACTGACATCATT	0.393												
TTN	7273	broad.mit.edu	37	2	179496000	179496000	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:179496000A>C	uc021vsy.1	-	185	36296	c.36071T>G	c.(36070-36072)cTt>cGt	p.L12024R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L5719R|TTN_uc021vta.1_Missense_Mutation_p.L5652R|TTN_uc021vtb.1_Missense_Mutation_p.L5527R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12951	Pro-rich.						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)			ATAATCTTGAAGTTTTCCTGT	0.348												
DNAH7	56171	broad.mit.edu	37	2	196753131	196753131	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:196753131C>G	uc002utj.4	-	32	5358	c.5257G>C	c.(5257-5259)Gag>Cag	p.E1753Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1753	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGTGAGGCTCCATGTAAATC	0.393												
ZDBF2	57683	broad.mit.edu	37	2	207171009	207171009	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:207171009A>G	uc002vbp.2	+	4	2007	c.1757A>G	c.(1756-1758)gAt>gGt	p.D586G		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	586							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGATTGTGATGTTTCTCTT	0.428												
MMP9	4318	broad.mit.edu	37	20	44639814	44639814	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:44639814G>A	uc002xqz.3	+	4	701	c.682G>A	c.(682-684)Gcg>Acg	p.A228T		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	228	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.A228A(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCAGATGGCGCGGCCTGCCA	0.637												
SALL4	57167	broad.mit.edu	37	20	50408434	50408434	+	Silent	SNP	C	C	A	rs143754390		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:50408434C>A	uc002xwh.4	-	1	689	c.588G>T	c.(586-588)cgG>cgT	p.R196R	SALL4_uc010gii.3_Silent_p.R196R|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	196					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCGCGCTCCGCTGATTCA	0.602												
ZNF860	344787	broad.mit.edu	37	3	32031844	32031844	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:32031844T>G	uc011axg.2	+	1	1822	c.1273T>G	c.(1273-1275)Tct>Gct	p.S425A	ZNF860_uc021wuv.1_Missense_Mutation_p.S425A	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TGAAGAGAGATCTTACAAGTG	0.348												
SETD2	29072	broad.mit.edu	37	3	47127761	47127761	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:47127761T>C	uc003cqv.3	-	11	5608	c.5522A>G	c.(5521-5523)cAt>cGt	p.H1841R	SETD2_uc003cqs.3_Missense_Mutation_p.H1774R|SETD2_uc003cqt.1_5'Flank	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGACAGCCCATGACGTTCCAG	0.498			"""N, F, S, Mis"""		clear cell renal carcinoma							
MST1	4485	broad.mit.edu	37	3	49723304	49723304	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:49723304C>T	uc003cxg.3	-	9	1311	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_uc011bcs.1_Missense_Mutation_p.R452H	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682												
SLMAP	7871	broad.mit.edu	37	3	57898233	57898233	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:57898233G>T	uc003dje.1	+	17	1979	c.1774G>T	c.(1774-1776)Gca>Tca	p.A592S	SLMAP_uc003djd.1_Missense_Mutation_p.A575S|SLMAP_uc003djf.1_Missense_Mutation_p.A554S|SLMAP_uc003djg.1_Missense_Mutation_p.A186S|SLMAP_uc011bez.1_Missense_Mutation_p.A60S|SLMAP_uc011bfa.1_Missense_Mutation_p.A126S|SLMAP_uc003djh.3_Missense_Mutation_p.A85S|SLMAP_uc003dji.1_Missense_Mutation_p.A126S|SLMAP_uc011bfb.1_Missense_Mutation_p.A126S|SLMAP_uc011bfc.1_Missense_Mutation_p.A85S	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	592					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAAGCAGCAGCAAAGGTTGC	0.483												
ACTRT3	84517	broad.mit.edu	37	3	169487253	169487253	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:169487253G>A	uc003ffs.2	-	0	431	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TRNA_Val_uc021xhc.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Homo sapiens actin related protein M1 (ARPM1), mRNA.	19						cytoplasm|cytoskeleton											AGCCACGCCCGCCTTGATCAT	0.672												
KIAA1109	84162	broad.mit.edu	37	4	123238013	123238013	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr4:123238013C>G	uc003ieh.3	+	59	10711	c.10666C>G	c.(10666-10668)Ctg>Gtg	p.L3556V	KIAA1109_uc003iel.1_Missense_Mutation_p.L1491V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3556					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATAGATGATCTGAAGTATGT	0.328												
CEP44	80817	broad.mit.edu	37	4	175229838	175229838	+	Splice_Site	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr4:175229838A>G	uc010iro.2	+	7	813	c.508_splice	c.e7-2	p.K170_splice	CEP44_uc003its.2_Splice_Site|CEP44_uc003itr.3_Splice_Site_p.K170_splice	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	170						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TTCTCTATGCAGAAGAAAGCT	0.328												
ZNF608	57507	broad.mit.edu	37	5	124080387	124080387	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:124080387T>G	uc003ktq.1	-	0	479	c.296A>C	c.(295-297)aAa>aCa	p.K99T	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Missense_Mutation_p.K99T|ZNF608_uc003ktt.1_Missense_Mutation_p.K99T	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	99						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)		GCTGGTCTCTTTGTGTGAATT	0.507												
PCDHAC2	56147	broad.mit.edu	37	5	140166327	140166327	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:140166327G>A	uc003lhb.2	+	0	452	c.452G>A	c.(451-453)cGt>cAt	p.R151H	PCDHAC2_uc003lha.2_Missense_Mutation_p.R151H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R151H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	166	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R150Q(1)		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)			CTGAATTCGCGTTTTCCGATA	0.448												
MYLIP	29116	broad.mit.edu	37	6	16141881	16141881	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr6:16141881G>C	uc003nbq.3	+	2	541	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	102	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCACATCAAGGAGGCCCTCTT	0.512												
C7orf65	401335	broad.mit.edu	37	7	47698593	47698593	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:47698593C>A	uc010kyp.1	+	2	258	c.223C>A	c.(223-225)Cta>Ata	p.L75I		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	75										endometrium(1)|lung(2)	3						CAGGGAGCTGCTATTTCTGTT	0.502												
MUC17	140453	broad.mit.edu	37	7	100701312	100701312	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:100701312C>T	uc003uxp.1	+	12	13522	c.13469C>T	c.(13468-13470)aCg>aTg	p.T4490M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4490						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T4490T(1)		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)					CAGGTAATGACGACATCATTT	0.493												
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:107416977C>G	uc003ver.2	-	14	1808	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	SLC26A3_uc003ves.2_Missense_Mutation_p.E498Q	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(2)|p.P532Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378												
OR6B1	135946	broad.mit.edu	37	7	143701298	143701298	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:143701298A>T	uc003wdt.1	+	0	209	c.209A>T	c.(208-210)gAg>gTg	p.E70V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCCTTCTTGGAGACCTGGTAC	0.458												
RUNX1T1	862	broad.mit.edu	37	8	93027036	93027036	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:93027036G>A	uc022axs.1	-	3	603	c.416C>T	c.(415-417)aCg>aTg	p.T139M	RUNX1T1_uc003yfc.2_Missense_Mutation_p.T53M|RUNX1T1_uc010mam.3_Missense_Mutation_p.T53M|RUNX1T1_uc003yfe.2_Missense_Mutation_p.T43M|RUNX1T1_uc003yfd.3_Missense_Mutation_p.T80M|RUNX1T1_uc022axo.1_Missense_Mutation_p.T80M|RUNX1T1_uc010mao.3_Missense_Mutation_p.T53M|RUNX1T1_uc011lgi.2_Missense_Mutation_p.T91M|RUNX1T1_uc022axp.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axq.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axr.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axt.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axu.1_Missense_Mutation_p.T60M|RUNX1T1_uc022axv.1_Missense_Mutation_p.T80M|RUNX1T1_uc003yfb.2_Missense_Mutation_p.T43M|RUNX1T1_uc003yff.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfg.2_Missense_Mutation_p.T43M	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	80	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGAATGGCTCGTGCCATTAGT	0.473												
KCNK9	51305	broad.mit.edu	37	8	140630517	140630517	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:140630517C>T	uc003yvf.1	-	1	1173	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KCNK9_uc003yvg.1_Missense_Mutation_p.R370H|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	370						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGACTTCCGGCGTTTCATCAG	0.453												
PLEC	5339	broad.mit.edu	37	8	144992145	144992145	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:144992145C>T	uc003zaf.1	-	31	12425	c.12255G>A	c.(12253-12255)tcG>tcA	p.S4085S	PLEC_uc003zab.1_Silent_p.S3948S|PLEC_uc003zac.1_Silent_p.S3952S|PLEC_uc003zad.2_Silent_p.S3948S|PLEC_uc003zae.1_Silent_p.S3916S|PLEC_uc003zag.1_Silent_p.S3926S|PLEC_uc003zah.2_Silent_p.S3934S|PLEC_uc003zaj.2_Silent_p.S3975S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4085	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTGGTACACCGAGAGCCGTT	0.612												
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr9:33464075C>T	uc003zsz.3	-	21	2965	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_uc003zsy.3_Missense_Mutation_p.R9H|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.R952H|NOL6_uc011lob.2_Missense_Mutation_p.R903H|NOL6_uc003ztb.1_Missense_Mutation_p.R955H	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	955					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.R955H(2)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567												
CXorf65	158830	broad.mit.edu	37	X	70325861	70325861	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chrX:70325861C>T	uc011mpo.2	-	2	471	c.239G>A	c.(238-240)cGt>cAt	p.R80H	CXorf65_uc011mpp.2_Missense_Mutation_p.R32H	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	80										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TGGTGGCCCACGTTCCACCTT	0.453