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
ATAD3C	219293	broad.mit.edu	37	1	1392509	1392509	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:1392509C>T	uc001aft.2	+	8	1685	c.690_splice	c.e8-1	p.G230_splice		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	230							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGTCCACAGCCTCCTGCTCT	0.642												
KAZN	23254	broad.mit.edu	37	1	15441012	15441012	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:15441012G>A	uc001avm.4	+	14	2490	c.2209G>A	c.(2209-2211)Gat>Aat	p.D737N	C1orf126_uc001avv.4_Non-coding_Transcript|C1orf126_uc009voh.3_Non-coding_Transcript|KAZN_uc001avs.4_Missense_Mutation_p.D184N	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	737					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAAAGATCCCGATTTCCATGA	0.493												
HP1BP3	50809	broad.mit.edu	37	1	21106349	21106349	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:21106349G>A	uc001bdy.1	-	1	252	c.152C>T	c.(151-153)aCt>aTt	p.T51I	HP1BP3_uc001bdv.1_Missense_Mutation_p.T13I|HP1BP3_uc001bdw.1_Missense_Mutation_p.T51I|HP1BP3_uc010odh.1_Missense_Mutation_p.T13I|HP1BP3_uc001bea.2_Missense_Mutation_p.T50I|HP1BP3_uc001beb.3_Missense_Mutation_p.T51I	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	51					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TTTGGGAGGAGTTTCCCGGGT	0.403												
PEX11B	8799	broad.mit.edu	37	1	145517332	145517332	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:145517332C>T	uc001eny.2	+	1	352	c.116C>T	c.(115-117)cCt>cTt	p.P39L	GNRHR2_uc009wiv.2_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.3_5'Flank|PEX11B_uc010oyu.2_Missense_Mutation_p.P25L	NM_003846	NP_003837	O96011	PX11B_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.	39					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCCAGTCCTGAGTTACAG	0.537												
IQGAP3	128239	broad.mit.edu	37	1	156524129	156524129	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:156524129A>G	uc001fpf.3	-	12	1421	c.1346T>C	c.(1345-1347)cTg>cCg	p.L449P	IQGAP3_uc009wsb.1_Missense_Mutation_p.L406P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	449					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGGTTAATCAGGACCACAGC	0.622												
AXDND1	126859	broad.mit.edu	37	1	179460808	179460808	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:179460808C>G	uc001gmo.3	+	18	2614	c.2227C>G	c.(2227-2229)Cga>Gga	p.R743G	AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.R701G|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	743								p.R743*(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGGAGTTGCGCGATTGGAGCT	0.413												
F13B	2165	broad.mit.edu	37	1	197021962	197021962	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:197021962G>A	uc001gtt.1	-	8	1401	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	453	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACAGTACATGGTTCTGTAAAA	0.259												
RBP3	5949	broad.mit.edu	37	10	48389610	48389610	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr10:48389610T>A	uc001jez.3	-	0	1382	c.1268A>T	c.(1267-1269)cAa>cTa	p.Q423L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	423	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACCAGTGCTTGCCGGATAGC	0.627												
OR51F1	256892	broad.mit.edu	37	11	4790374	4790374	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:4790374C>T	uc010qyl.2	-	0	774	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	258						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGACAGGCTCAGCATGTGGA	0.522												
SLC22A25	387601	broad.mit.edu	37	11	62985164	62985164	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:62985164C>T	uc001nwr.1	-	2	550	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.A184T	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	184					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCTACAATGGCGAGCTGGAGG	0.488												
NLRX1	79671	broad.mit.edu	37	11	119052983	119052983	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:119052983C>T	uc001pvu.3	+	8	2750	c.2535C>T	c.(2533-2535)aaC>aaT	p.N845N	NLRX1_uc001pvv.3_Silent_p.N845N|NLRX1_uc001pvw.3_Silent_p.N845N|NLRX1_uc001pvx.3_Silent_p.N845N	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	845	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGCGTACAACGGTGCTGGTG	0.677												
ARHGEF12	23365	broad.mit.edu	37	11	120352059	120352059	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:120352059C>T	uc001pxl.2	+	38	4663	c.4328C>T	c.(4327-4329)aCa>aTa	p.T1443I	ARHGEF12_uc009zat.3_Missense_Mutation_p.T1424I|ARHGEF12_uc009zau.1_Missense_Mutation_p.T1340I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1443					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGCCCATGACAGGCATCCCT	0.512			T	MLL	AML							
C1QL4	338761	broad.mit.edu	37	12	49726939	49726939	+	Silent	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr12:49726939G>A	uc001rtz.1	-	1	1326	c.615C>T	c.(613-615)gaC>gaT	p.D205D		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	Homo sapiens complement component 1, q subcomponent-like 4 (C1QL4), mRNA.	205	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						CGTCGCCCACGTCCAGGTGCA	0.597												
NHLRC3	387921	broad.mit.edu	37	13	39613426	39613426	+	Splice_Site	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:39613426G>A	uc001uxc.3	+	2	559	c.237_splice	c.e2+1	p.Q79_splice	PROSER1_uc001uwy.3_5'Flank|PROSER1_uc001uwz.3_5'Flank|NHLRC3_uc001uxd.3_Splice_Site_p.Q79_splice|NHLRC3_uc001uxe.3_Splice_Site	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA.	79						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CATAGGTCAAGTAAGTAAATA	0.388												
RB1	5925	broad.mit.edu	37	13	48916734	48916734	+	Splice_Site	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48916734G>A	uc001vcb.3	+	3	431	c.265_splice	c.e3-1	p.G89_splice	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	89					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGTTCCCAGGGAGGTTATA	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
RB1	5925	broad.mit.edu	37	13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48941638_48941641delTCTT	uc001vcb.3	+	9	1114_1117	c.948_951delTCTT	c.(946-951)aatcttfs	p.N316fs	RB1_uc010act.1_Frame_Shift_Del_p.N17fs	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	316					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
MTA1	9112	broad.mit.edu	37	14	105936268	105936268	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr14:105936268C>T	uc001yqx.3	+	19	2123	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Missense_Mutation_p.R634W|MTA1_uc001yrb.3_Missense_Mutation_p.R411W	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	646					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGTCAAGCGGCGGCGGATGAA	0.677												
TSC2	7249	broad.mit.edu	37	16	2134716	2134716	+	Missense_Mutation	SNP	G	G	A	rs137854099		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:2134716G>A	uc002con.3	+	34	4599	c.4493_splice	c.e34+1	p.S1498_splice	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Splice_Site_p.S1475_splice|TSC2_uc002coo.3_Splice_Site_p.S1431_splice|TSC2_uc010uvv.2_Splice_Site_p.S1395_splice|TSC2_uc010uvw.2_Splice_Site_p.S1383_splice|TSC2_uc002cop.3_Splice_Site_p.S1254_splice|TSC2_uc002coq.3_Splice_Site_p.S273_splice	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1498			S -> N (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCAACCCCAGGTGGGCCTCT	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis			
GRIN2A	2903	broad.mit.edu	37	16	9862916	9862916	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:9862916A>T	uc010uym.2	-	12	2697	c.2387T>A	c.(2386-2388)cTc>cAc	p.L796H	GRIN2A_uc002czo.4_Missense_Mutation_p.L796H|GRIN2A_uc010uyn.2_Missense_Mutation_p.L639H|GRIN2A_uc002czr.4_Missense_Mutation_p.L796H	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	796					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATCCCAGTGAGCCACAGGGT	0.567												
IL4R	3566	broad.mit.edu	37	16	27373977	27373977	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:27373977C>G	uc002don.3	+	10	1546	c.1304C>G	c.(1303-1305)cCt>cGt	p.P435R	IL4R_uc002dop.4_Missense_Mutation_p.P420R|IL4R_uc010bxy.3_Missense_Mutation_p.P435R|IL4R_uc002doo.3_Missense_Mutation_p.P275R	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	435					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTCTTCCACCTTCGGGAAGT	0.612												
CDH8	1006	broad.mit.edu	37	16	61689535	61689535	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:61689535C>A	uc002eog.2	-	10	2700	c.1745G>T	c.(1744-1746)gGa>gTa	p.G582V		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	582	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGAGGATTTCCACTATCACT	0.438												
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)		
KCNJ18	3768	broad.mit.edu	37	17	21318689	21318689	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:21318689T>G	uc021tss.1	+	2	405	c.35T>G	c.(34-36)aTc>aGc	p.I12S	KCNJ18_uc002gyv.1_Missense_Mutation_p.I12S|KCNJ18_uc021tst.1_Missense_Mutation_p.I12S	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	12						integral to membrane	inward rectifier potassium channel activity										CCCTACAGCATCGTGTCATCG	0.711												
NF1	4763	broad.mit.edu	37	17	29661898	29661898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:29661898G>A	uc002hgg.3	+	39	6238	c.5855G>A	c.(5854-5856)tGg>tAg	p.W1952*	NF1_uc002hgh.3_Nonsense_Mutation_p.W1931*|NF1_uc010cso.3_Nonsense_Mutation_p.W140*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1952			W -> R (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.M1949fs*2(1)|p.P1951fs*6(1)|p.P1951L(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGACTCCATGGCTGTCAAAT	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
KRTAP4-8	728224	broad.mit.edu	37	17	39253949	39253949	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:39253949T>A	uc010wfo.2	-	0	427	c.388A>T	c.(388-390)Agc>Tgc	p.S130C		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	130	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgctgcagctgggg	0.677												
EFTUD2	9343	broad.mit.edu	37	17	42942379	42942379	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:42942379G>A	uc002ihn.2	-	13	1465	c.1204C>T	c.(1204-1206)Cac>Tac	p.H402Y	EFTUD2_uc010wje.1_Missense_Mutation_p.H367Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H392Y	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	402						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTCGTCAGGTGGATGCCAAGC	0.557											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LPO	4025	broad.mit.edu	37	17	56344837	56344837	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:56344837C>T	uc002ivt.3	+	11	2137	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	LPO_uc010wns.2_Silent_p.I548I|LPO_uc010dcp.3_Silent_p.I524I|LPO_uc010dcq.3_Silent_p.I278I|LPO_uc010dcr.3_Silent_p.I170I	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	607					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CTGACAACATCGACATCTGGA	0.587												
ALPK2	115701	broad.mit.edu	37	18	56203541	56203541	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:56203541A>G	uc002lhj.4	-	4	4092	c.3878T>C	c.(3877-3879)aTa>aCa	p.I1293T	ALPK2_uc002lhk.1_Missense_Mutation_p.I624T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1293							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAATGCTGCTATTTCAGAGGG	0.507												
SERPINB7	8710	broad.mit.edu	37	18	61471670	61471670	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:61471670G>A	uc002ljl.3	+	7	1040	c.944G>A	c.(943-945)cGt>cAt	p.R315H	SERPINB7_uc002ljm.3_Missense_Mutation_p.R315H|SERPINB7_uc010xet.2_Missense_Mutation_p.R298H|SERPINB7_uc010dqg.3_Missense_Mutation_p.R315H	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	315					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.R315H(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCGGGGGGTCGTCTGTATATA	0.428												
KCNG2	26251	broad.mit.edu	37	18	77624159	77624159	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:77624159C>T	uc010xfl.2	+	0	492	c.492C>T	c.(490-492)cgC>cgT	p.R164R		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	164					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ggcgccTGCGCGACGTGGTGG	0.796												
CD209	30835	broad.mit.edu	37	19	7812212	7812212	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:7812212C>T	uc002mht.2	-	1	153	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	CD209_uc010xju.1_Missense_Mutation_p.R29Q|CD209_uc010dvp.2_Missense_Mutation_p.R29Q|CD209_uc002mhr.2_Missense_Mutation_p.R29Q|CD209_uc002mhs.2_Missense_Mutation_p.R29Q|CD209_uc002mhu.2_Missense_Mutation_p.R29Q|CD209_uc010dvq.2_Missense_Mutation_p.R29Q|CD209_uc002mhq.2_Missense_Mutation_p.R29Q|CD209_uc002mhv.2_Missense_Mutation_p.R29Q|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.R29Q	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	29					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R29R(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTGTATCCTCGAGTCTGTCG	0.577												
IGFL1	374918	broad.mit.edu	37	19	46733408	46733408	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:46733408C>T	uc002pee.3	+	1	92	c.69C>T	c.(67-69)caC>caT	p.H23H		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	Homo sapiens IGF-like family member 1 (IGFL1), mRNA.	23						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		TCTGCTCACACGGAGCCCCAG	0.597												
KLK6	5653	broad.mit.edu	37	19	51462532	51462532	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:51462532C>T	uc002puh.3	-	4	715	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	KLK6_uc010eoj.3_Missense_Mutation_p.E80K|KLK6_uc002pui.3_Missense_Mutation_p.R208Q|KLK6_uc002puj.3_Missense_Mutation_p.R101Q|KLK6_uc010ycn.2_Missense_Mutation_p.R101Q|KLK6_uc002pul.3_Missense_Mutation_p.R208Q|KLK6_uc002pum.3_Missense_Mutation_p.R101Q	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	208	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.P217H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CACAAGGCCTCGGAGGTGGTC	0.512												
SMARCAL1	50485	broad.mit.edu	37	2	217285033	217285033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr2:217285033C>T	uc002vgc.4	+	4	1204	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	SMARCAL1_uc002vgd.4_Nonsense_Mutation_p.Q292*|SMARCAL1_uc010fvg.3_Nonsense_Mutation_p.Q292*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	292	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GAAAGCAGCCCAGAGCCTCCC	0.557									Schimke Immuno-Osseous Dysplasia			
TSHZ2	128553	broad.mit.edu	37	20	51870294	51870294	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr20:51870294C>T	uc002xwo.3	+	1	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	TSHZ2_uc021wex.1_Silent_p.C96C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	99					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTGTCTGCGGCAGAGATG	0.512												
RRP1B	23076	broad.mit.edu	37	21	45092195	45092195	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr21:45092195C>A	uc002zdk.3	+	2	334	c.220C>A	c.(220-222)Ctc>Atc	p.L74I		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	74					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCAGGAAGAGCTCGCCAACAC	0.552												
PIK3CB	5291	broad.mit.edu	37	3	138374298	138374298	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr3:138374298A>C	uc011bmq.2	-	21	3146	c.3146T>G	c.(3145-3147)cTc>cGc	p.L1049R	PIK3CB_uc011bmn.2_Missense_Mutation_p.L561R|PIK3CB_uc011bmo.2_Missense_Mutation_p.L500R|PIK3CB_uc011bmp.2_Missense_Mutation_p.L636R|PIK3CB_uc003est.1_Non-coding_Transcript	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	1049	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1048V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCTTTCCCTGAGCGCCTCATC	0.418												
RBM47	54502	broad.mit.edu	37	4	40440532	40440532	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr4:40440532C>T	uc003gvc.2	-	3	1089	c.379G>A	c.(379-381)Gca>Aca	p.A127T	RBM47_uc003gvd.2_Missense_Mutation_p.A127T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A89T|RBM47_uc003gvg.1_Missense_Mutation_p.A127T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	127	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCACGCACTGCGCGCTTGGCC	0.642												
FYB	2533	broad.mit.edu	37	5	39202820	39202820	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:39202820C>T	uc003jls.3	-	0	310	c.243G>A	c.(241-243)ccG>ccA	p.P81P	FYB_uc003jlt.3_Silent_p.P81P|FYB_uc003jlu.3_Silent_p.P81P|FYB_uc011cpl.2_Silent_p.P91P	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	81					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTTAGAAACGGGGGCTTGG	0.552												
NUDT12	83594	broad.mit.edu	37	5	102891710	102891710	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:102891710C>T	uc003koi.3	-	3	979	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	NUDT12_uc011cvb.2_Missense_Mutation_p.G278S	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	296						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTATAGCCACCTTCTTCAATT	0.393												
PCDHGC5	56114	broad.mit.edu	37	5	140711002	140711002	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:140711002G>A	uc003lji.2	+	0	751	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	PCDHGC5_uc011dan.2_Missense_Mutation_p.V251I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	251	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATATAAATGTCCCCGAAAA	0.493												
RUFY1	80230	broad.mit.edu	37	5	179036447	179036447	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:179036447A>C	uc003mka.1	+	17	2054	c.2054A>C	c.(2053-2055)tAc>tCc	p.Y685S	RUFY1_uc003mkb.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkc.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkd.1_Missense_Mutation_p.Y287S	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	685					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCCTCCTACCCCAAGCCG	0.647										HNSCC(44;0.11)		
CARD11	84433	broad.mit.edu	37	7	2951813	2951813	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:2951813G>A	uc003smv.3	-	22	3471	c.3137C>T	c.(3136-3138)gCc>gTc	p.A1046V		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1046	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACCTTGGCGGCCACAGCTTC	0.602			Mis		DLBCL							
NXPH1	30010	broad.mit.edu	37	7	8791355	8791355	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:8791355G>A	uc003srv.3	+	2	1683	c.772G>A	c.(772-774)Gac>Aac	p.D258N	NXPH1_uc011jxh.2_Missense_Mutation_p.D141N	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	258	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTGTGCCCTGACTACAACTA	0.443												
ZNF713	349075	broad.mit.edu	37	7	56007178	56007178	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:56007178T>C	uc003tra.2	+	6	1618	c.811T>C	c.(811-813)Tca>Cca	p.S271P	ZNF713_uc003trc.1_Missense_Mutation_p.S258P	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGCCACACCTCATCTCTTAG	0.423												
AHCYL2	23382	broad.mit.edu	37	7	129062691	129062691	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:129062691G>T	uc011kov.2	+	12	1535	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	AHCYL2_uc003vot.3_Missense_Mutation_p.R490L|AHCYL2_uc003vov.3_Missense_Mutation_p.R388L|AHCYL2_uc011kox.2_Missense_Mutation_p.R388L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	491					one-carbon metabolic process		adenosylhomocysteinase activity	p.R491L(2)|p.R388L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCGAGTCTGCGGACACCAGAA	0.507												
TP53INP1	94241	broad.mit.edu	37	8	95952365	95952365	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:95952365A>G	uc003yhg.3	-	2	580	c.196T>C	c.(196-198)Ttt>Ctt	p.F66L	TP53INP1_uc003yhh.3_Missense_Mutation_p.F66L	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	66					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAACAGGAAAAGACTGAAGGG	0.463												
WDR67	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:124140520_124140521insT	uc003ypp.2	+	14	1975	c.1885_splice	c.e14-1	p.F629_splice	WDR67_uc011lig.2_Splice_Site_p.F629_splice|WDR67_uc011lih.2_Splice_Site_p.F519_splice|WDR67_uc003ypq.2_Splice_Site|WDR67_uc003yps.2_Intron|WDR67_uc003ypu.2_Splice_Site_p.F86_splice	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	629						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTTCTTACAGTTTTTTTTTCA	0.322												
CYP11B1	1584	broad.mit.edu	37	8	143956491	143956491	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:143956491C>G	uc010mey.3	-	9	1500	c.1493G>C	c.(1492-1494)cGc>cCc	p.R498P	CYP11B1_uc010mex.3_Missense_Mutation_p.R126P|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Missense_Mutation_p.R427P|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	427					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R427H(1)|p.L497I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GTCTAGCCAGCGCTGGGGGTT	0.647									Familial Hyperaldosteronism type I			
C9orf64	84267	broad.mit.edu	37	9	86571236	86571236	+	Silent	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:86571236G>A	uc004anb.3	-	0	428	c.180C>T	c.(178-180)gcC>gcT	p.A60A	C9orf64_uc004anc.3_Intron	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	60										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGGCCTCGTCGGCCGCCCTGG	0.647												
SEC16A	9919	broad.mit.edu	37	9	139369673	139369673	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:139369673C>G	uc004chx.3	-	2	2704	c.2395G>C	c.(2395-2397)Gag>Cag	p.E799Q	SEC16A_uc004chv.4_Missense_Mutation_p.E426Q|SEC16A_uc004chw.3_Missense_Mutation_p.E799Q|SEC16A_uc010nbn.3_Missense_Mutation_p.E799Q|SEC16A_uc010nbo.1_Missense_Mutation_p.E799Q	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	621					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCTCCTCCTCTCCCATTTTG	0.572												
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	Silent	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:141071110A>G	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597												
MAGT1	84061	broad.mit.edu	37	X	77109426	77109426	+	Silent	SNP	T	T	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:77109426T>C	uc004fof.3	-	6	956	c.894A>G	c.(892-894)gtA>gtG	p.V298V	MAGT1_uc004fog.4_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	266					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGTTTCAGCTACAAACTGGG	0.348												
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433												
