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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TEP1	7011	broad.mit.edu	37	14	20849089	20849089	+	Splice_Site	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:20849089C>T	ENST00000262715.5	-	33	4803		c.e33+1		TEP1_ENST00000545983.1_Splice_Site|TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACTCATCTCACCATAGAGGGC	0.577000													23	70					0	0	0.069288	0	0
LAMA1	284217	broad.mit.edu	37	18	6999495	6999495	+	Missense_Mutation	SNP	G	G	A	rs149937004		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:6999495G>A	ENST00000389658.3	-	32	4705	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1538	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCGCACCGGAGCCCCGAG	0.537000													7	31					0	0	0.047766	0	0
ANAPC1	64682	broad.mit.edu	37	2	112638249	112638249	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:112638249C>T	ENST00000341068.3	-	2	926	c.154G>A	c.(154-156)Gat>Aat	p.D52N	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GCAGCACCATCAGAAGACCAT	0.473000													11	58					0	0	0.024245	0	0
TLK2	11011	broad.mit.edu	37	17	60598172	60598172	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:60598172C>T	ENST00000326270.9	+	3	388	c.120C>T	c.(118-120)tgC>tgT	p.C40C	TLK2_ENST00000542523.1_Silent_p.C40C|TLK2_ENST00000346027.5_Silent_p.C40C|TLK2_ENST00000343388.7_Silent_p.C40C|TLK2_ENST00000582809.1_5'UTR			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	40					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.C40C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGAGCTTGTGCAGCGTCGGAT	0.393000													4	191					0	0	0.014758	0	0
SCRIB	23513	broad.mit.edu	37	8	144893221	144893221	+	Silent	SNP	C	C	T	rs146561937	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:144893221C>T	ENST00000356994.2	-	11	1134	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	SCRIB_ENST00000320476.3_Silent_p.A376A|SCRIB_ENST00000377533.3_Silent_p.A295A	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	376	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGTGGGTGAGCGCGAACGGCA	0.687000													6	10					0	0	0.029380	0	0
ZNF516	9658	broad.mit.edu	37	18	74154265	74154265	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:74154265G>A	ENST00000443185.2	-	3	1063	c.746C>T	c.(745-747)cCg>cTg	p.P249L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CACCTCGCACGGGAACTCCCC	0.687000													16	34					0	0	0.028581	0	0
TTLL12	23170	broad.mit.edu	37	22	43575707	43575707	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:43575707T>C	ENST00000216129.6	-	5	821	c.758A>G	c.(757-759)aAg>aGg	p.K253R		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	253					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGCATGCACTTCCGGATCAG	0.662000													52	135					0	0	0.048971	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999521	112999521	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:112999521A>T	ENST00000271277.6	+	6	1632	c.1407A>T	c.(1405-1407)caA>caT	p.Q469H	RP4-671G15.3_ENST00000508462.1_RNA|CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	469						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGTCCCAAGCAGATCAGG	0.552000													32	123					0	0	0.050027	0	0
MCHR2	84539	broad.mit.edu	37	6	100390920	100390920	+	Silent	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:100390920C>A	ENST00000281806.2	-	4	806	c.492G>T	c.(490-492)ctG>ctT	p.L164L	MCHR2_ENST00000369212.1_Silent_p.L164L|MCHR2_ENST00000445970.1_Silent_p.L164L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	164						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGGCAATGCCAGGATAAAGG	0.478000													72	104					1.93348e-29	2.37966e-29	0.048971	1	0
SLITRK6	84189	broad.mit.edu	37	13	86369608	86369608	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:86369608G>A	ENST00000400286.2	-	2	1634	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	346	LRRNT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTGACAATGTATTAGAAGT	0.408000													70	97					0	0	0.048971	0	0
PTPN4	5775	broad.mit.edu	37	2	120718402	120718402	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:120718402G>T	ENST00000263708.2	+	23	2924	c.2153G>T	c.(2152-2154)aGc>aTc	p.S718I	PTPN4_ENST00000544261.1_Missense_Mutation_p.S351I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	718	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCTTCTTCCAGCATTATAAAT	0.358000													67	155					1.20466e-24	1.43182e-24	0.048971	1	0
MYO9B	4650	broad.mit.edu	37	19	17283733	17283733	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:17283733G>A	ENST00000595618.1	+	13	2253	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	MYO9B_ENST00000594824.1_Missense_Mutation_p.A701T|MYO9B_ENST00000397274.2_Missense_Mutation_p.A701T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	701	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTTCGGGAGGCCGGACGCCT	0.687000													4	33					0	0	0.009096	0	0
CDADC1	81602	broad.mit.edu	37	13	49823089	49823089	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:49823089G>A	ENST00000251108.6	+	2	278	c.165G>A	c.(163-165)cgG>cgA	p.R55R	CDADC1_ENST00000538056.1_Silent_p.R55R|CDADC1_ENST00000444959.1_5'UTR|CDADC1_ENST00000496952.1_3'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	55							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AAGCCCAGCGGCAAAAATCTC	0.413000													5	209					0	0	0.021553	0	0
CFHR2	3080	broad.mit.edu	37	1	196928027	196928027	+	Silent	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:196928027A>G	ENST00000367415.4	+	5	744	c.630A>G	c.(628-630)tcA>tcG	p.S210S	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.S210S	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	210	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTGTAATATCACAAGAAATTA	0.274000													41	75					0	0	0.092188	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654402	61654402	+	Missense_Mutation	SNP	C	C	T	rs150328649	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:61654402C>T	ENST00000397985.2	+	7	1271	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	SERPINB8_ENST00000353706.2_Missense_Mutation_p.R339W|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.R157W	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	339		Reactive bond (By similarity).			regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.R339R(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAGGAATTCCCGGTGCAGCAG	0.532000													19	59					0	0	0.034045	0	0
DNAH8	1769	broad.mit.edu	37	6	38754589	38754589	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:38754589T>C	ENST00000359357.3	+	16	2047	c.1793T>C	c.(1792-1794)cTg>cCg	p.L598P	DNAH8_ENST00000449981.2_Missense_Mutation_p.L815P|DNAH8_ENST00000441566.1_Missense_Mutation_p.L598P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAAGTTGCTGGTTAATTTC	0.363000													77	99					0	0	0.048971	0	0
ICAM1	3383	broad.mit.edu	37	19	10394262	10394262	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:10394262T>A	ENST00000264832.3	+	3	762	c.437T>A	c.(436-438)cTc>cAc	p.L146H	ICAM1_ENST00000423829.2_Intron|ICAM1_ENST00000585443.1_3'UTR|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	146	Ig-like C2-type 2.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CGGGCCAACCTCACCGTGGTG	0.667000													8	50					0	0	0.038147	0	0
OR56A1	120796	broad.mit.edu	37	11	6048184	6048184	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:6048184G>T	ENST00000316650.5	-	1	787	c.751C>A	c.(751-753)Cac>Aac	p.H251N		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGAAGTGGGAGCCACAT	0.493000													34	35					3.03874e-20	3.57095e-20	0.059317	1	0
KDM2B	84678	broad.mit.edu	37	12	121878774	121878774	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:121878774C>T	ENST00000377069.4	-	20	3654	c.3248G>A	c.(3247-3249)cGg>cAg	p.R1083Q	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.R1152Q|KDM2B_ENST00000542973.1_Missense_Mutation_p.R520Q	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1152	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACCAAGTCCCGGAGCCCTGG	0.647000													14	66					0	0	0.024245	0	0
MOV10L1	54456	broad.mit.edu	37	22	50591608	50591608	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:50591608G>A	ENST00000262794.5	+	22	3110	c.3027G>A	c.(3025-3027)ttG>ttA	p.L1009L	MOV10L1_ENST00000395843.1_Silent_p.L52L|MOV10L1_ENST00000395852.1_Silent_p.L136L|MOV10L1_ENST00000395858.3_Silent_p.L1009L|MOV10L1_ENST00000545383.1_Silent_p.L1009L|MOV10L1_ENST00000540615.1_Silent_p.L989L|MOV10L1_ENST00000354853.2_Silent_p.L52L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1009					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGGAGAAGTTGCCTAAGAAAG	0.582000													58	166					0	0	0.048971	0	0
BRINP2	57795	broad.mit.edu	37	1	177249786	177249786	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:177249786C>G	ENST00000361539.4	+	8	1786	c.1474C>G	c.(1474-1476)Cgg>Ggg	p.R492G	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		492						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGGGCTGTGCCGGCCAGAGGT	0.622000													40	50					0	0	0.111260	0	0
TTN	7273	broad.mit.edu	37	2	179432093	179432093	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:179432093C>T	ENST00000589042.1	-	326	78990	c.78766G>A	c.(78766-78768)Gca>Aca	p.A26256T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A24615T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A23688T|TTN_ENST00000460472.2_Missense_Mutation_p.A17191T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A17383T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A17316T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24615	Fibronectin type-III 91.						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)			ATTCTAATTGCATCTTTTACA	0.353000													11	415					0	0	0.080935	0	0
FER1L6	654463	broad.mit.edu	37	8	125076699	125076699	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:125076699C>T	ENST00000522917.1	+	26	3646	c.3440C>T	c.(3439-3441)cCc>cTc	p.P1147L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1147L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1147						integral to membrane		p.P1147H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAGTGGTGCCCGACTCTGCC	0.607000													78	104					0	0	0.048971	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863794	108863794	+	Silent	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:108863794T>C	ENST00000376700.1	+	1	144	c.144T>C	c.(142-144)gaT>gaC	p.D48D	SULT1C3_ENST00000329106.2_Silent_p.D48D			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	48						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AGCCTGATGATCTTATTCTGG	0.338000													19	173					0	0	0.055883	0	0
FBL	2091	broad.mit.edu	37	19	40327295	40327295	+	Silent	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:40327295C>A	ENST00000221801.3	-	7	809	c.696G>T	c.(694-696)gtG>gtT	p.V232V	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	232					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CAGCAAAGATCACATCCACCA	0.537000													21	37					2.37509e-13	2.65602e-13	0.055883	1	0
ATP8B5P	158381	broad.mit.edu	37	9	35449831	35449831	+	RNA	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:35449831G>T	ENST00000430846.1	+	0	2681																											CAAATGGCACGTGTTCAGTAT	0.418000													41	29					1.52319e-26	1.84199e-26	0.104719	1	0
FCRLA	84824	broad.mit.edu	37	1	161681106	161681106	+	Missense_Mutation	SNP	G	G	A	rs145034072		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:161681106G>A	ENST00000540926.1	+	4	652	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.R131Q|FCRLA_ENST00000349527.4_Missense_Mutation_p.R114Q|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.R137Q|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.R120Q|FCRLA_ENST00000350710.3_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	114	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACCTTCTACCGAGATGGCTCA	0.592000													38	75					0	0	0.086207	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269705	150269705	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:150269705G>T	ENST00000255945.2	+	3	722	c.547G>T	c.(547-549)Ggt>Tgt	p.G183C	GIMAP4_ENST00000461940.1_Missense_Mutation_p.G197C|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	183							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACATTTTCGGTGACCGCTA	0.512000													21	151					1.28384e-07	1.38362e-07	0.062417	1	0
CXADRP3	440224	broad.mit.edu	37	18	14479287	14479287	+	RNA	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:14479287C>A	ENST00000581457.1	-	0	621					NR_024076.1																						GTGCCGTGGGCGGCGGCTGAG	0.587000													5	7					0.0215528	0.0224149	0.021553	1	0
ENPEP	2028	broad.mit.edu	37	4	111474548	111474548	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:111474548A>G	ENST00000265162.5	+	18	2921	c.2579A>G	c.(2578-2580)aAc>aGc	p.N860S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	860					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATCTCATATAACAGCTATGGG	0.393000													121	129					0	0	0.048971	0	0
PRDM9	56979	broad.mit.edu	37	5	23527862	23527862	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:23527862G>T	ENST00000296682.3	+	11	2847	c.2665G>T	c.(2665-2667)Gtc>Ttc	p.V889F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	889					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAGCCCTACGTCTGCAGGGA	0.522000										HNSCC(3;0.000094)			17	112					6.49762e-13	7.2273e-13	0.038395	1	0
MUC16	94025	broad.mit.edu	37	19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:9014654C>T	ENST00000397910.4	-	31	38524	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12776	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAAGACGGTGGGTGCA	0.567000													13	56					0	0	0.028581	0	0
RCC2	55920	broad.mit.edu	37	1	17743045	17743045	+	Silent	SNP	C	C	T	rs11588635	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:17743045C>T	ENST00000375436.4	-	8	1144	c.957G>A	c.(955-957)acG>acA	p.T319T	RCC2_ENST00000375433.3_Silent_p.T319T	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	319					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTCCATCTTTCGTCTTCTCAA	0.547000													7	99					0	0	0.029380	0	0
ZNF718	255403	broad.mit.edu	37	4	124639	124639	+	RNA	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:124639G>C	ENST00000510175.1	+	0	136							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AGGAGTCTGTGAATGGAGTTC	0.667000													46	44					0	0	0.039052	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925281	53925281	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:53925281C>A	ENST00000371445.3	+	1	210	c.155C>A	c.(154-156)gCg>gAg	p.A52E		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	52					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						ATCATGGCCGCGCAGAAGGTG	0.697000													4	8					0.00909568	0.00955506	0.009096	1	0
ABCC8	6833	broad.mit.edu	37	11	17434265	17434265	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:17434265T>A	ENST00000302539.4	-	21	2632	c.2507A>T	c.(2506-2508)cAg>cTg	p.Q836L	ABCC8_ENST00000389817.3_Missense_Mutation_p.Q835L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	835	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACTGATTCGCTGGCGTTGACC	0.582000													6	12					0	0	0.029380	0	0
ZNF419	79744	broad.mit.edu	37	19	58005043	58005043	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:58005043G>A	ENST00000424930.2	+	5	1350	c.1121G>A	c.(1120-1122)tGc>tAc	p.C374Y	ZNF419_ENST00000347466.6_Missense_Mutation_p.C341Y|ZNF419_ENST00000426954.2_Missense_Mutation_p.C361Y|ZNF419_ENST00000354197.4_Missense_Mutation_p.C361Y|ZNF419_ENST00000221735.7_Missense_Mutation_p.C373Y|ZNF419_ENST00000442920.2_Missense_Mutation_p.C360Y|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.C327Y	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CCTTACAAGTGCAGCGACTGT	0.413000													61	98					0	0	0.048971	0	0
VPS13B	157680	broad.mit.edu	37	8	100829989	100829989	+	Silent	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:100829989G>T	ENST00000358544.2	+	45	8505	c.8394G>T	c.(8392-8394)gtG>gtT	p.V2798V	VPS13B_ENST00000357162.2_Silent_p.V2773V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2798					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAGAGATGTGTGCCTGGAAT	0.418000													100	69					9.45097e-43	1.21346e-42	0.048971	1	0
NSD1	64324	broad.mit.edu	37	5	176637762	176637762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:176637762C>T	ENST00000439151.2	+	5	2407	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R685*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R519*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R519*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	788					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCCAAGTTCCGAAGTATAAA	0.413000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			38	45					0	0	0.074837	0	0
PCDH9	5101	broad.mit.edu	37	13	67799767	67799767	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:67799767C>A	ENST00000544246.1	-	2	3497	c.2806G>T	c.(2806-2808)Gcc>Tcc	p.A936S	PCDH9_ENST00000377865.2_Missense_Mutation_p.A936S|PCDH9_ENST00000328454.5_Missense_Mutation_p.A936S|PCDH9_ENST00000377861.3_Missense_Mutation_p.A936S|PCDH9_ENST00000456367.1_Missense_Mutation_p.A936S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	936					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGTGCTTGGCCAGGTCAGGA	0.502000													67	88					5.26073e-25	6.28868e-25	0.048971	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668369	176668369	+	Silent	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:176668369G>T	ENST00000367662.3	+	8	4044	c.2880G>T	c.(2878-2880)ccG>ccT	p.P960P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	960					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCAACACCCGGTCCAAGCCG	0.572000													91	281					1.19196e-48	1.54173e-48	0.048971	1	0
GPR111	222611	broad.mit.edu	37	6	47649207	47649207	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:47649207A>C	ENST00000398742.2	+	5	757	c.708A>C	c.(706-708)aaA>aaC	p.K236N	GPR111_ENST00000296862.1_Missense_Mutation_p.K304N|GPR111_ENST00000507065.1_Missense_Mutation_p.K236N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	304					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACATTGGAAAAAATTTCACTT	0.398000													89	293					0	0	0.048971	0	0
GBA3	57733	broad.mit.edu	37	4	22749649	22749649	+	RNA	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:22749649T>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGATCCATCTTGGAAAAATG	0.368000													13	15					0	0	0.020292	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879416	94879416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:94879416G>T	ENST00000289495.5	+	8	2395	c.2179G>T	c.(2179-2181)Gaa>Taa	p.E727*	PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000433881.1_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E749*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E727*	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	727	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGAATAAGGAAAGAATGTT	0.433000										HNSCC(28;0.073)			19	41					8.28177e-16	9.46488e-16	0.043863	1	0
VWA3A	146177	broad.mit.edu	37	16	22130326	22130326	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:22130326C>A	ENST00000389398.5	+	12	1190	c.1094C>A	c.(1093-1095)gCg>gAg	p.A365E	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	365						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCTGTGAGGCGCTCACCTGC	0.612000													9	25					2.17888e-05	2.32414e-05	0.058154	1	0
FAM13B	51306	broad.mit.edu	37	5	137346746	137346746	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:137346746T>A	ENST00000033079.3	-	6	1092	c.641A>T	c.(640-642)aAt>aTt	p.N214I	FAM13B_ENST00000425075.2_Missense_Mutation_p.N96I|FAM13B_ENST00000420893.2_Missense_Mutation_p.N214I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	214	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TTCCTCTTCATTCTCAAAAAA	0.303000													70	60					0	0	0.048971	0	0
SDK1	221935	broad.mit.edu	37	7	4002400	4002400	+	Missense_Mutation	SNP	G	G	A	rs148101694		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:4002400G>A	ENST00000404826.2	+	9	1485	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	SDK1_ENST00000389531.3_Missense_Mutation_p.R449H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	449	Ig-like C2-type 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGAAGCTGCGTCCAGAGGAC	0.587000													21	33					0	0	0.062417	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472679	47472679	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:47472679C>G	ENST00000266581.4	-	2	573	c.107G>C	c.(106-108)gGt>gCt	p.G36A	AMIGO2_ENST00000429635.1_Missense_Mutation_p.G36A|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G36A|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G36A	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	36					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CCCAGAGGCACCAGGGCCCAC	0.587000													47	104					0	0	0.048971	0	0
MAP1B	4131	broad.mit.edu	37	5	71494697	71494697	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:71494697G>A	ENST00000296755.7	+	5	5813	c.5515G>A	c.(5515-5517)Gat>Aat	p.D1839N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1839						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGTTATTCGATACAATGCA	0.493000													40	44					0	0	0.042209	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780575	106780575	+	RNA	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:106780575G>A	ENST00000390612.2	-	0	360																											AGGGAGAACTGGTTCTTGGAC	0.542000													110	265					0	0	0.048971	0	0
NUP188	23511	broad.mit.edu	37	9	131743547	131743547	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:131743547A>G	ENST00000372577.2	+	15	1415	c.1394A>G	c.(1393-1395)tAt>tGt	p.Y465C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	465					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGGCAGGTGTATAGCTTCTTG	0.423000													107	335					0	0	0.048971	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34827076	34827076	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:34827076C>T	ENST00000192788.5	+	14	3114	c.2943C>T	c.(2941-2943)agC>agT	p.S981S	UHRF1BP1_ENST00000452449.2_Silent_p.S981S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	981										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAAACTGAGCAGAACCCAAG	0.572000													65	86					0	0	0.048971	0	0
ITPKA	3706	broad.mit.edu	37	15	41795316	41795316	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:41795316G>A	ENST00000260386.5	+	7	1391	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	446					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTATTTGCTGGGGCTGGACA	0.662000													19	16					0	0	0.049695	0	0
AKAP9	10142	broad.mit.edu	37	7	91729178	91729178	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:91729178G>C	ENST00000359028.2	+	44	11128	c.10903G>C	c.(10903-10905)Gat>Cat	p.D3635H	AKAP9_ENST00000356239.3_Missense_Mutation_p.D3631H|AKAP9_ENST00000358100.2_Missense_Mutation_p.D3581H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3635					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCTGGTAGAGATAATGTATG	0.378000			T	BRAF	papillary thyroid								26	165					0	0	0.099896	0	0
KCNB2	9312	broad.mit.edu	37	8	73480044	73480044	+	Silent	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:73480044G>T	ENST00000523207.1	+	2	663	c.75G>T	c.(73-75)gtG>gtT	p.V25V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	25					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGAGCCTGTGGACATTATCC	0.547000													86	173					1.07134e-49	1.4015e-49	0.048971	1	0
VEZT	55591	broad.mit.edu	37	12	95660258	95660258	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:95660258T>A	ENST00000436874.1	+	5	665	c.560T>A	c.(559-561)tTa>tAa	p.L187*	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Nonsense_Mutation_p.L139*	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	187						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GCTTTGAGATTATGGAGGACA	0.428000													132	210					0	0	0.048971	0	0
CEP41	95681	broad.mit.edu	37	7	130038842	130038842	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:130038842T>A	ENST00000223208.4	-	11	1282	c.1012A>T	c.(1012-1014)Aag>Tag	p.K338*	CEP41_ENST00000541543.1_Nonsense_Mutation_p.K250*|CEP41_ENST00000343969.5_Nonsense_Mutation_p.K266*	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	338					G2/M transition of mitotic cell cycle	centrosome|cytosol											CCAGGCACCTTGGACTCTCTT	0.592000													110	184					0	0	0.048971	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													4	178					0	0	0.009096	0	0
GOLGA5	9950	broad.mit.edu	37	14	93277936	93277936	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:93277936G>A	ENST00000163416.2	+	6	1413	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R386H	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	386					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GAAATGGAACGTCAGAATTTA	0.358000			T	RET	papillary thyroid								42	120					0	0	0.092188	0	0
GON4L	54856	broad.mit.edu	37	1	155747430	155747430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:155747430G>A	ENST00000437809.1	-	15	2196	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q692*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q692*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q692*			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	692					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCTGCTGCTGGAGTCTCTTC	0.473000													91	165					0	0	0.048971	0	0
RFX4	5992	broad.mit.edu	37	12	107126787	107126787	+	Silent	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:107126787C>G	ENST00000392842.1	+	15	1971	c.1557C>G	c.(1555-1557)gcC>gcG	p.A519A	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.A528A|RFX4_ENST00000229387.5_Silent_p.A425A|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	519					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAAAATCTGCCACATCTGTGG	0.507000													74	122					0	0	0.048971	0	0
RAB38	23682	broad.mit.edu	37	11	87908418	87908418	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:87908418G>A	ENST00000243662.6	-	1	217	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	45					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGAGCGCGAAGTCCACGCCGA	0.632000													37	34					0	0	0.069456	0	0
LINGO2	158038	broad.mit.edu	37	9	27950604	27950604	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:27950604C>G	ENST00000379992.2	-	6	515	c.66G>C	c.(64-66)atG>atC	p.M22I	LINGO2_ENST00000308675.3_Missense_Mutation_p.M22I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	22						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGGTGGATCCCATGAAGATTA	0.542000													4	55					0	0	0.021553	0	0
POTEE	445582	broad.mit.edu	37	2	132020968	132020968	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:132020968A>G	ENST00000356920.5	+	15	2034	c.1940A>G	c.(1939-1941)gAa>gGa	p.E647G	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	647							ATP binding										GTCTTGCATGAAAATAGTACG	0.348000													26	52					0	0	0.108266	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215455	134215455	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:134215455A>C	ENST00000359579.4	+	2	447	c.127A>C	c.(127-129)Att>Ctt	p.I43L	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	43					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ATATCGGCACATTGACTGTGC	0.458000													27	133					0	0	0.037714	0	0
SLC35F5	80255	broad.mit.edu	37	2	114501302	114501302	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:114501302C>A	ENST00000245680.2	-	6	963	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	SLC35F5_ENST00000409342.1_Missense_Mutation_p.D178Y	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	184					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTTTCAGTATCAATGTTTGTG	0.358000													70	218					1.37693e-34	1.73577e-34	0.048971	1	0
HSDL2	84263	broad.mit.edu	37	9	115216373	115216373	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:115216373A>G	ENST00000398805.3	+	9	1173	c.946A>G	c.(946-948)Att>Gtt	p.I316V	HSDL2_ENST00000539114.1_Missense_Mutation_p.I111V|HSDL2_ENST00000398803.1_Missense_Mutation_p.I243V|HSDL2_ENST00000262542.7_Missense_Mutation_p.I196V|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	316	SCP2.					peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AACATTTAGAATTGTTAAGGA	0.398000													81	159					0	0	0.048971	0	0
EPAS1	2034	broad.mit.edu	37	2	46603862	46603862	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:46603862C>A	ENST00000263734.3	+	9	1729	c.1219C>A	c.(1219-1221)Cca>Aca	p.P407T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	407					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCTCCCACCCCAGGAGACGC	0.562000													80	188					2.67039e-37	3.38684e-37	0.048971	1	0
PGBD1	84547	broad.mit.edu	37	6	28269689	28269689	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:28269689G>C	ENST00000405948.2	+	7	2478	c.2058G>C	c.(2056-2058)ttG>ttC	p.L686F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L686F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	686					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATAATTTTGTGTCGTTGGT	0.388000													84	312					0	0	0.048971	0	0
SSX2IP	117178	broad.mit.edu	37	1	85135504	85135504	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:85135504T>C	ENST00000437941.2	-	3	557	c.205A>G	c.(205-207)Ata>Gta	p.I69V	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.I96V|SSX2IP_ENST00000605755.1_Missense_Mutation_p.I69V|SSX2IP_ENST00000370612.4_Missense_Mutation_p.I96V	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	96					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAGCTACTATATTTAACTCT	0.368000													67	107					0	0	0.048971	0	0
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	RNA	SNP	A	A	G	rs9729175	by1000genomes	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.1																						TGCTGCCCGCAGGATATTGTG	0.562000													5	22					0	0	0.038147	0	0
AKAP13	11214	broad.mit.edu	37	15	86260576	86260576	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:86260576G>A	ENST00000394518.2	+	21	5886	c.5791G>A	c.(5791-5793)Gac>Aac	p.D1931N	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.D176N|AKAP13_ENST00000361243.2_Missense_Mutation_p.D1935N	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1931	Interaction with ESR1.				apoptosis|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|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCATTCAACAGACTCACTAAA	0.378000													26	39					0	0	0.099896	0	0
OR5D14	219436	broad.mit.edu	37	11	55563331	55563331	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:55563331G>T	ENST00000335605.1	+	1	300	c.300G>T	c.(298-300)atG>atT	p.M100I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAGCTGCATGATGCAGTACT	0.458000													43	110					1.03325e-14	1.1744e-14	0.042209	1	0
MATN4	8785	broad.mit.edu	37	20	43933064	43933064	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:43933064C>T	ENST00000537548.1	-	4	691	c.447G>A	c.(445-447)cgG>cgA	p.R149R	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000353917.5_Silent_p.R149R|MATN4_ENST00000360607.5_Silent_p.R149R|MATN4_ENST00000372756.1_Silent_p.R149R|MATN4_ENST00000372754.1_Silent_p.R149R|MATN4_ENST00000342716.4_Silent_p.R149R			O95460	MATN4_HUMAN	matrilin 4	149	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGTCCTGGGGCCGCCCGTCTG	0.721000													6	7					0	0	0.029380	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099626	142099626	+	RNA	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:142099626C>G	ENST00000390359.3	-	0	214																											TGGCCCCTGCCCCAGGGCCTG	0.512000													33	67					0	0	0.054565	0	0
PCLO	27445	broad.mit.edu	37	7	82580369	82580369	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:82580369C>G	ENST00000423517.2	-	6	9872	c.9535G>C	c.(9535-9537)Gac>Cac	p.D3179H	PCLO_ENST00000333891.8_Missense_Mutation_p.D3179H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3110	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAACAGAGTCTATCGTCTCA	0.423000													11	53					0	0	0.093190	0	0
KLRG1	10219	broad.mit.edu	37	12	9162052	9162052	+	Nonsense_Mutation	SNP	C	C	A	rs145154967		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:9162052C>A	ENST00000266551.4	+	5	504	c.489C>A	c.(487-489)tgC>tgA	p.C163*	KLRG1_ENST00000356986.3_Nonsense_Mutation_p.C163*|KLRG1_ENST00000538029.1_3'UTR	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	163	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TGCAGACATGCGGTGCCATCA	0.433000													38	92					2.04263e-09	2.22444e-09	0.069456	1	0
TRPV6	55503	broad.mit.edu	37	7	142571344	142571344	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:142571344C>A	ENST00000359396.3	-	13	1890	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	549					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCAGGTCCACGTTGTAGTTG	0.562000													78	165					2.51111e-31	3.14645e-31	0.048971	1	0
PDZD9	255762	broad.mit.edu	37	16	21995735	21995735	+	Silent	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:21995735C>A	ENST00000286143.6	-	5	783	c.462G>T	c.(460-462)gtG>gtT	p.V154V	PDZD9_ENST00000424898.2_Silent_p.V216V|PDZD9_ENST00000537222.2_Silent_p.V156V			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	216										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						AAGGGGCCCTCACTTCTTTCT	0.433000													164	349					6.73164e-69	8.97552e-69	0.048971	1	0
NOXRED1	122945	broad.mit.edu	37	14	77873902	77873902	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:77873902G>A	ENST00000380835.2	-	3	602	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	NOXRED1_ENST00000298358.3_Missense_Mutation_p.P146S	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	146					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGCTGAGACGGCAAGCAGCAG	0.493000													4	149					0	0	0.009096	0	0
CLCN2	1181	broad.mit.edu	37	3	184069802	184069802	+	Splice_Site	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:184069802T>G	ENST00000265593.4	-	22	2585	c.2415_splice	c.e22+1	p.K805_splice	CLCN2_ENST00000434054.2_Splice_Site_p.K761_splice|CLCN2_ENST00000344937.7_Splice_Site_p.K788_splice|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Splice_Site_p.K805_splice|CLCN2_ENST00000423355.2_3'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	805	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGGCCCTACCTTGTGCAAAGA	0.577000													482	156					0	0	0.048971	0	0
UPF1	5976	broad.mit.edu	37	19	18958606	18958606	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:18958606A>G	ENST00000262803.5	+	3	697	c.425A>G	c.(424-426)aAg>aGg	p.K142R	UPF1_ENST00000599848.1_Missense_Mutation_p.K142R	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	142	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACCAGCAAGAAGTGGTTCTGC	0.428000											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	99					0	0	0.043863	0	0
MICAL3	57553	broad.mit.edu	37	22	18369952	18369952	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:18369952G>A	ENST00000441493.2	-	15	2403	c.2051C>T	c.(2050-2052)aCc>aTc	p.T684I	MICAL3_ENST00000585038.1_Missense_Mutation_p.T684I|MICAL3_ENST00000400561.2_Missense_Mutation_p.T684I|MICAL3_ENST00000207726.7_Missense_Mutation_p.T684I|MICAL3_ENST00000414725.2_Missense_Mutation_p.T684I|MICAL3_ENST00000429452.1_Missense_Mutation_p.T684I|MICAL3_ENST00000383094.3_Missense_Mutation_p.T684I|MICAL3_ENST00000444520.1_Missense_Mutation_p.T684I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	684						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGATTGACTGGTCTTTCTCCT	0.433000													19	48					0	0	0.062417	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650912	146650912	+	RNA	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:146650912G>C	ENST00000607149.1	+	0	350																											CCTTGGTGTGGTCACTGTAAG	0.418000													29	94					0	0	0.034045	0	0
TRIM67	440730	broad.mit.edu	37	1	231349664	231349664	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:231349664G>A	ENST00000444294.3	+	9	3079	c.2221G>A	c.(2221-2223)Gcc>Acc	p.A741T	TRIM67_ENST00000449018.3_Missense_Mutation_p.A681T|TRIM67_ENST00000366653.5_Missense_Mutation_p.A743T|TRIM67_ENST00000366652.2_Missense_Mutation_p.A743T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	743	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGCCCCACAGCCTTCAGCCA	0.652000													30	42					0	0	0.064281	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	63					0	0	0.014758	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162379	90162379	+	RNA	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:90162379A>G	ENST00000564451.1	+	0	1732				TUBB8P7_ENST00000567960.1_RNA																							TGGGAATAATACGGCCATCCA	0.522000													4	174					0	0	0.014758	0	0
FBN2	2201	broad.mit.edu	37	5	127646995	127646995	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:127646995C>G	ENST00000508053.1	-	45	6045	c.5071G>C	c.(5071-5073)Gaa>Caa	p.E1691Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E1691Q			P35556	FBN2_HUMAN	fibrillin 2	1691	EGF-like 27; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCTCACCTTCACAGATGCGG	0.498000													21	25					0	0	0.062417	0	0
OR10R2	343406	broad.mit.edu	37	1	158449897	158449897	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:158449897C>A	ENST00000368152.1	+	1	230	c.230C>A	c.(229-231)aCa>aAa	p.T77K	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGCCTCCACACACCAATGTAC	0.433000													189	345					6.2233e-82	8.4055e-82	0.048971	1	0
MAP3K7CL	56911	broad.mit.edu	37	21	30521536	30521536	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr21:30521536C>T	ENST00000399935.2	+	8	764	c.97C>T	c.(97-99)Cct>Tct	p.P33S	MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.P133S|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.P133S|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.P27S|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000286791.5_3'UTR					MAP3K7 C-terminal like																		AGACTCCATTCCTTTGGTCTT	0.423000													138	102					0	0	0.048971	0	0
SLC4A4	8671	broad.mit.edu	37	4	72429555	72429555	+	Missense_Mutation	SNP	A	A	G	rs150809470		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:72429555A>G	ENST00000340595.3	+	21	3209	c.3013A>G	c.(3013-3015)Atg>Gtg	p.M1005V	SLC4A4_ENST00000264485.5_Missense_Mutation_p.M1049V|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Missense_Mutation_p.M965V	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1049						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TAAAATTCCAATGGACATCAT	0.373000													86	138					0	0	0.048971	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293541	145293541	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:145293541C>G	ENST00000342960.5	+	1	171	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.Q46E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	46										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTTCTAACTCAACTGGCCGG	0.448000													32	886					0	0	0.064281	0	0
SMAD4	4089	broad.mit.edu	37	18	48604809	48604809	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:48604809C>T	ENST00000342988.3	+	12	2169	c.1631C>T	c.(1630-1632)cCg>cTg	p.P544L	SMAD4_ENST00000398417.2_Missense_Mutation_p.P544L|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.P448L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	544	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATACCATGCCGATTGCAGAC	0.463000													6	139					0	0	0.029380	0	0
RYR3	6263	broad.mit.edu	37	15	33936553	33936553	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:33936553C>A	ENST00000389232.4	+	28	3668	c.3598C>A	c.(3598-3600)Cgc>Agc	p.R1200S	RYR3_ENST00000415757.3_Missense_Mutation_p.R1200S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1200	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGATCGGCCGCATGAATCT	0.517000													13	9					1.05317e-09	1.15294e-09	0.020292	1	0
PCK1	5105	broad.mit.edu	37	20	56140152	56140152	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:56140152G>A	ENST00000319441.4	+	9	1539	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PCK1_ENST00000543666.1_Missense_Mutation_p.A142T|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	459					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGTGGGGGCGGCCATGAGATC	0.473000													6	183					0	0	0.021553	0	0
AHRR	57491	broad.mit.edu	37	5	423993	423993	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:423993G>A	ENST00000316418.5	+	7	665	c.621G>A	c.(619-621)caG>caA	p.Q207Q	AHRR_ENST00000505113.1_Silent_p.Q207Q|AHRR_ENST00000506456.1_Silent_p.Q63Q|AHRR_ENST00000512529.1_Silent_p.Q53Q	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCAGGGCCCAGGAGTGGGGCA	0.657000													54	59					0	0	0.048971	0	0
GIF	2694	broad.mit.edu	37	11	59603312	59603312	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:59603312C>G	ENST00000541311.1	-	7	1201	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	GIF_ENST00000257248.2_Missense_Mutation_p.E348Q			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	348					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TGTGCTTCCTCTAGGACAACA	0.413000													106	292					0	0	0.048971	0	0
OR4M1	441670	broad.mit.edu	37	14	20248817	20248817	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:20248817G>C	ENST00000315957.4	+	1	417	c.336G>C	c.(334-336)atG>atC	p.M112I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCGGAGATGTTCTTGCTCA	0.478000													153	598					0	0	0.048971	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87188228	87188228	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:87188228G>A	ENST00000370558.4	+	4	673	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A117T|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A17T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	117	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGCAGGTAATGCCCTTATTAA	0.308000													32	189					0	0	0.050027	0	0
KCNB1	3745	broad.mit.edu	37	20	47991215	47991215	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:47991215G>A	ENST00000371741.4	-	2	1048	c.882C>T	c.(880-882)cgC>cgT	p.R294R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	294					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R294R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGGACCACGCGGCGGACAT	0.532000													9	78					0	0	0.058154	0	0
FASN	2194	broad.mit.edu	37	17	80041948	80041948	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:80041948G>A	ENST00000306749.2	-	29	5219	c.5001C>T	c.(4999-5001)ccC>ccT	p.P1667P		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1667	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGTCTCCCCGGGGCGCACCC	0.721000													3	4					0	0	0.004672	0	0
HYDIN	54768	broad.mit.edu	37	16	70852359	70852359	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:70852359C>T	ENST00000393567.2	-	84	14694	c.14544G>A	c.(14542-14544)gcG>gcA	p.A4848A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4848										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGAGGCTGACGCAACTTGCC	0.547000													12	15					0	0	0.024245	0	0
PFDN2	5202	broad.mit.edu	37	1	161072167	161072167	+	Splice_Site	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:161072167T>C	ENST00000368010.3	-	2	160		c.e2-2		PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2						'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCAATCACCTAACAAGGTGA	0.522000													3	92					0	0	0.009096	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721196	50721196	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:50721196G>C	ENST00000449103.1	-	18	3071	c.2931C>G	c.(2929-2931)ttC>ttG	p.F977L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F977L			O15031	PLXB2_HUMAN	plexin B2	977	IPT/TIG 2.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCGGTAGGTGAAGAAGATGC	0.677000													7	34					0	0	0.029380	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182363	5182363	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:5182363C>G	ENST00000274181.7	+	4	846	c.708C>G	c.(706-708)agC>agG	p.S236R	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S236R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	236					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCACAGCAGCGACCTTCGCC	0.522000													46	82					0	0	0.048971	0	0
CASQ2	845	broad.mit.edu	37	1	116280898	116280898	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:116280898C>G	ENST00000261448.5	-	4	718	c.479G>C	c.(478-480)cGc>cCc	p.R160P	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	160					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.R160L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTCTTCAATGCGTTCGAAGGC	0.448000													105	211					0	0	0.048971	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153591558	153591558	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:153591558A>T	ENST00000326446.5	+	3	1216	c.505A>T	c.(505-507)Agc>Tgc	p.S169C	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	169						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						CTCCTGTTGCAGCTTTTCTTG	0.393000													109	225					0	0	0.048971	0	0
CDC14A	8556	broad.mit.edu	37	1	100964649	100964649	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:100964649C>T	ENST00000336454.3	+	15	1941	c.1586C>T	c.(1585-1587)cCt>cTt	p.P529L	CDC14A_ENST00000544534.1_Missense_Mutation_p.P529L|CDC14A_ENST00000361544.6_Missense_Mutation_p.P529L|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.P471L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	529					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGAAATTACCCTGAGCTCAAC	0.547000													33	52					0	0	0.050027	0	0
C7	730	broad.mit.edu	37	5	40981608	40981608	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:40981608C>T	ENST00000313164.9	+	18	2824	c.2465C>T	c.(2464-2466)gCt>gTt	p.A822V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	822	Complement control factor I module 2.			GA -> AL (in Ref. 3).	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAGGCGGGCGCTCTGAGATGC	0.567000													22	36					0	0	0.069288	0	0
OR4C3	256144	broad.mit.edu	37	11	48346805	48346805	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:48346805A>G	ENST00000319856.4	+	1	334	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGGCTCCTAAACTCATTGC	0.463000													15	311					0	0	0.048971	0	0
PTPRR	5801	broad.mit.edu	37	12	71158499	71158499	+	Silent	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:71158499T>G	ENST00000283228.2	-	3	869	c.417A>C	c.(415-417)ggA>ggC	p.G139G	PTPRR_ENST00000342084.4_Silent_p.G27G	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	139					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTGCAGCCACTCCTTGGCGGA	0.408000													63	91					0	0	0.048971	0	0
TFRC	7037	broad.mit.edu	37	3	195780420	195780420	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:195780420G>T	ENST00000360110.4	-	18	2078	c.1909C>A	c.(1909-1911)Ctg>Atg	p.L637M	TFRC_ENST00000420415.1_Missense_Mutation_p.L556M|TFRC_ENST00000392396.3_Missense_Mutation_p.L637M|TFRC_ENST00000535031.1_Missense_Mutation_p.L355M|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	637	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGTAAACTCAGGCCCATTTCC	0.393000			T	BCL6	NHL								101	80					1.19336e-48	1.54173e-48	0.048971	1	0
THSD4	79875	broad.mit.edu	37	15	72023481	72023481	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:72023481C>A	ENST00000355327.3	+	10	1689	c.1555C>A	c.(1555-1557)Cca>Aca	p.P519T	THSD4_ENST00000261862.6_Missense_Mutation_p.P519T|THSD4_ENST00000357769.4_Missense_Mutation_p.P159T|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	519						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAGCCAAACCCAGGCGTGCA	0.552000											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	67					4.36969e-10	4.80897e-10	0.105934	1	0
TG	7038	broad.mit.edu	37	8	134042084	134042084	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:134042084G>T	ENST00000220616.4	+	41	7095	c.7055G>T	c.(7054-7056)gGc>gTc	p.G2352V	TG_ENST00000542445.1_Missense_Mutation_p.G722V|TG_ENST00000519543.1_Missense_Mutation_p.G485V|TG_ENST00000377869.1_Missense_Mutation_p.G2295V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2352					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTGAGTGGCAACTGGGGG	0.572000													26	47					2.61193e-14	2.95262e-14	0.041601	1	0
ENTPD1	953	broad.mit.edu	37	10	97583051	97583051	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:97583051C>A	ENST00000371207.3	+	2	173	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	ENTPD1_ENST00000453258.2_Missense_Mutation_p.S32Y|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.S25Y|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	25					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGCTTCTCCTCTATCATAGCT	0.393000													66	79					1.17253e-29	1.4517e-29	0.048971	1	0
KCNC3	3748	broad.mit.edu	37	19	50826517	50826517	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:50826517G>A	ENST00000376959.2	-	2	1856	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	KCNC3_ENST00000477616.1_Missense_Mutation_p.R565W|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	565					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		TGCGGGGGCCGGGGGATGTGT	0.662000													16	8					0	0	0.038395	0	0
TOP1	7150	broad.mit.edu	37	20	39706251	39706251	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:39706251G>A	ENST00000361337.2	+	5	559	c.309G>A	c.(307-309)aaG>aaA	p.K103K		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	103	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CAAAAATAAAGAAGGAGAAGG	0.438000			T	NUP98	AML*								81	71					0	0	0.048971	0	0
DEFB112	245915	broad.mit.edu	37	6	50016327	50016327	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:50016327T>C	ENST00000322246.4	-	1	37	c.38A>G	c.(37-39)gAa>gGa	p.E13G		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	13					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					GTACATTTTTTCAAGTTTCAG	0.328000													120	121					0	0	0.048971	0	0
PIGT	51604	broad.mit.edu	37	20	44045291	44045291	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:44045291T>A	ENST00000279036.6	+	2	402	c.322T>A	c.(322-324)Tca>Aca	p.S108T	PIGT_ENST00000372689.5_Missense_Mutation_p.S108T|PIGT_ENST00000543458.2_Missense_Mutation_p.S108T|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000341555.5_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	108					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCAGGCCCCATCAGGTGCAGA	0.582000													7	35					0	0	0.038147	0	0
PAX5	5079	broad.mit.edu	37	9	37015148	37015148	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:37015148A>G	ENST00000358127.4	-	3	330	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	PAX5_ENST00000520281.1_Missense_Mutation_p.S86P|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000377853.2_Missense_Mutation_p.S86P|PAX5_ENST00000520154.1_Missense_Mutation_p.S86P|PAX5_ENST00000377847.2_Missense_Mutation_p.S86P|PAX5_ENST00000377852.2_Missense_Mutation_p.S86P|PAX5_ENST00000523241.1_Missense_Mutation_p.S86P|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000414447.1_Missense_Mutation_p.S86P|PAX5_ENST00000446742.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	86	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTTGGTTTGGATCCTCCAATT	0.483000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								155	203					0	0	0.048971	0	0
C2CD5	9847	broad.mit.edu	37	12	22637814	22637814	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:22637814T>A	ENST00000333957.4	-	13	1622	c.1367A>T	c.(1366-1368)gAa>gTa	p.E456V	C2CD5_ENST00000545552.1_Missense_Mutation_p.E469V|C2CD5_ENST00000396028.2_Missense_Mutation_p.E447V|C2CD5_ENST00000542676.1_Missense_Mutation_p.E456V|C2CD5_ENST00000544930.1_Missense_Mutation_p.E271V|C2CD5_ENST00000446597.1_Missense_Mutation_p.E456V|C2CD5_ENST00000536386.1_Missense_Mutation_p.E458V	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		AGGCAAATTTTCTTCAAGCCt	0.274000													34	32					0	0	0.069456	0	0
JMJD4	65094	broad.mit.edu	37	1	227921284	227921284	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:227921284G>A	ENST00000366758.3	-	4	790	c.791C>T	c.(790-792)gCc>gTc	p.A264V	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.A264V|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	264	JmjC.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTCCCGCAGGGCCTCTTCCTG	0.637000													4	30					0	0	0.014758	0	0
CASQ2	845	broad.mit.edu	37	1	116280899	116280899	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:116280899G>A	ENST00000261448.5	-	4	717	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	160					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCTTCAATGCGTTCGAAGGCT	0.443000													107	211					0	0	0.048971	0	0
RNFT1	51136	broad.mit.edu	37	17	58040557	58040557	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:58040557G>A	ENST00000305783.8	-	2	200	c.145C>T	c.(145-147)Cca>Tca	p.P49S	RNFT1_ENST00000442346.2_Missense_Mutation_p.P12S|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	49						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CCAGTTCCTGGAGGACTGTGC	0.483000													81	67					0	0	0.048971	0	0
ZNF451	26036	broad.mit.edu	37	6	57012576	57012576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:57012576G>T	ENST00000370706.4	+	10	1937	c.1693G>T	c.(1693-1695)Gag>Tag	p.E565*	RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E565*|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E565*|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAGATGGATGAGGTAGAAGG	0.393000													119	313					4.07119e-57	5.35954e-57	0.048971	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856768	19856768	+	RNA	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:19856768A>G	ENST00000548109.1	+	0	72																											CATTACCTATAGAATATAAAG	0.289000													2	7					0	0	0.004672	0	0
NMS	129521	broad.mit.edu	37	2	101089969	101089969	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:101089969A>T	ENST00000376865.1	+	3	158	c.151A>T	c.(151-153)Agt>Tgt	p.S51C		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	51					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ATATTGTCTGAGTCAGTGGGC	0.318000													16	45					0	0	0.043863	0	0
ZNF263	10127	broad.mit.edu	37	16	3340026	3340026	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:3340026G>A	ENST00000219069.5	+	6	2396	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	ZNF263_ENST00000538765.1_Missense_Mutation_p.R155Q	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	507					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AACCTCCTTCGGCACCAGAGA	0.522000													20	58					0	0	0.055883	0	0
TIMP3	7078	broad.mit.edu	37	22	33253268	33253268	+	Silent	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:33253268G>C	ENST00000266085.6	+	3	538	c.237G>C	c.(235-237)gtG>gtC	p.V79V	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	79	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TGCCCCATGTGCAGTACATCC	0.502000													62	129					0	0	0.048971	0	0
UNC80	285175	broad.mit.edu	37	2	210654312	210654312	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:210654312G>T	ENST00000439458.1	+	6	861	c.781G>T	c.(781-783)Gat>Tat	p.D261Y	UNC80_ENST00000272845.5_Missense_Mutation_p.D261Y|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	261						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ACCAAATCAAGATGCAAGACA	0.393000													34	138					3.76114e-14	4.22874e-14	0.069456	1	0
HSPA13	6782	broad.mit.edu	37	21	15753858	15753858	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr21:15753858G>A	ENST00000285667.3	-	2	99	c.32C>T	c.(31-33)gCt>gTt	p.A11V	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	11						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCAAAACAGCCGATCCTGA	0.363000													3	18					0	0	0.004672	0	0
FNIP2	57600	broad.mit.edu	37	4	159782919	159782919	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:159782919G>A	ENST00000264433.6	+	12	1531	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T	FNIP2_ENST00000379346.3_Missense_Mutation_p.A509T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	486					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCTCTTTGGGCACAGCTGGG	0.443000													108	114					0	0	0.048971	0	0
CDH7	1005	broad.mit.edu	37	18	63511092	63511092	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:63511092A>T	ENST00000536984.2	+	7	1720	c.1026A>T	c.(1024-1026)gaA>gaT	p.E342D	CDH7_ENST00000323011.3_Missense_Mutation_p.E342D|CDH7_ENST00000397968.2_Missense_Mutation_p.E342D			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	342	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACGGATAGAAGCTGCAAATA	0.443000													47	95					0	0	0.045515	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972680	29972680	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:29972680G>T	ENST00000378993.1	+	10	1916	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.D415Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	415	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CACCAAAGTGGATCCTGACCA	0.358000													48	29					3.68337e-26	4.42856e-26	0.048971	1	0
CDH7	1005	broad.mit.edu	37	18	63529970	63529970	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:63529970C>T	ENST00000536984.2	+	11	2375	c.1681C>T	c.(1681-1683)Cca>Tca	p.P561S	CDH7_ENST00000323011.3_Missense_Mutation_p.P561S|CDH7_ENST00000397968.2_Missense_Mutation_p.P561S			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	561	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTACTATCTGCCAATTTTCAT	0.498000													26	74					0	0	0.091800	0	0
CDH5	1003	broad.mit.edu	37	16	66426206	66426206	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:66426206C>A	ENST00000341529.3	+	7	1285	c.1137C>A	c.(1135-1137)ttC>ttA	p.F379L	CDH5_ENST00000563425.2_Missense_Mutation_p.F379L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	379	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCTACCACTTCCAGCTGAAGG	0.552000													67	120					1.26778e-28	1.55117e-28	0.048971	1	0
ARHGAP6	395	broad.mit.edu	37	X	11204464	11204464	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:11204464C>A	ENST00000337414.4	-	5	2037	c.1165G>T	c.(1165-1167)Gct>Tct	p.A389S	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.A186S|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.A186S|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A389S|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A421S|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.A214S|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.A198S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	389					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTACTTTGAGCCTCAGCAGGC	0.463000													163	103					9.35327e-79	1.25515e-78	0.048971	1	0
TTC27	55622	broad.mit.edu	37	2	32891707	32891707	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:32891707T>A	ENST00000317907.4	+	7	1042	c.811T>A	c.(811-813)Ttg>Atg	p.L271M		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	271							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTCAGGTGCTTTGGGAAAAAG	0.368000													57	101					0	0	0.048971	0	0
DNAH8	1769	broad.mit.edu	37	6	38994415	38994415	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:38994415C>G	ENST00000359357.3	+	90	13411	c.13157C>G	c.(13156-13158)aCc>aGc	p.T4386S	DNAH8_ENST00000441566.1_Missense_Mutation_p.T4350S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGAGACAGACCAAGGAGGAG	0.527000													4	227					0	0	0.009096	0	0
PIWIL1	9271	broad.mit.edu	37	12	130851726	130851726	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:130851726T>G	ENST00000245255.3	+	19	2516	c.2244T>G	c.(2242-2244)ttT>ttG	p.F748L	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	748	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACACCAGATTTTTTGCTCAGT	0.408000													45	198					0	0	0.048971	0	0
FOXP1	27086	broad.mit.edu	37	3	71247445	71247445	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:71247445C>A	ENST00000318789.4	-	6	613	c.88G>T	c.(88-90)Ggc>Tgc	p.G30C	FOXP1_ENST00000475937.1_Missense_Mutation_p.G30C|FOXP1_ENST00000318779.3_Missense_Mutation_p.G30C|FOXP1_ENST00000484350.1_Missense_Mutation_p.G30C|FOXP1_ENST00000468577.1_Missense_Mutation_p.G30C|FOXP1_ENST00000498215.1_Missense_Mutation_p.G30C|FOXP1_ENST00000493089.1_Missense_Mutation_p.G30C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	30					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGAAGACCGCCGCACTCTAGT	0.602000			T	PAX5	ALL								69	98					2.69673e-31	3.35881e-31	0.048971	1	0
CXorf22	170063	broad.mit.edu	37	X	36007603	36007603	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:36007603G>T	ENST00000297866.5	+	16	2947	c.2881G>T	c.(2881-2883)Ggc>Tgc	p.G961C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	961										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGTTTTGAGGGCTATGAATT	0.328000													41	31					1.59932e-28	1.94538e-28	0.098360	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137138	40137138	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:40137138C>A	ENST00000278198.2	-	2	2668	c.705G>T	c.(703-705)agG>agT	p.R235S	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R235S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R235S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R235S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	235					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGAGCCAGGCCTGATGGCAG	0.463000													29	151					2.65835e-16	3.05489e-16	0.034045	1	0
NOTCH4	4855	broad.mit.edu	37	6	32188357	32188357	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32188357G>A	ENST00000375023.3	-	6	1122	c.984C>T	c.(982-984)aaC>aaT	p.N328N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	328	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGTGCCCCCGTTTCTGCAGT	0.617000													44	141					0	0	0.098360	0	0
OR2T1	26696	broad.mit.edu	37	1	248570029	248570029	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:248570029A>G	ENST00000366474.1	+	1	734	c.734A>G	c.(733-735)tAc>tGc	p.Y245C		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGCCCTCTACGAGACAGTG	0.493000													78	86					0	0	0.048971	0	0
ZWINT	11130	broad.mit.edu	37	10	58120976	58120976	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:58120976C>T	ENST00000373944.3	-	1	60	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	ZWINT_ENST00000361148.6_Missense_Mutation_p.A8T|ZWINT_ENST00000395405.1_Missense_Mutation_p.A8T			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	8					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGCTTCCGCCTCTGTCTCC	0.597000													9	13					0	0	0.038395	0	0
HCN1	348980	broad.mit.edu	37	5	45262156	45262156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:45262156G>T	ENST00000303230.4	-	8	2597	c.2540C>A	c.(2539-2541)tCg>tAg	p.S847*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	847						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GATGGCTCCCGACGACATCTG	0.642000													46	180					9.58827e-17	1.10798e-16	0.048971	1	0
VNN1	8876	broad.mit.edu	37	6	133013360	133013360	+	Splice_Site	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:133013360A>G	ENST00000367928.4	-	5	1202		c.e5+1			NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1						acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TCAAAATATTACCTGTAGATA	0.338000													3	158					0	0	0.004672	0	0
LDHB	3945	broad.mit.edu	37	12	21791345	21791345	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:21791345T>C	ENST00000396076.1	-	6	987	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	LDHB_ENST00000350669.1_Missense_Mutation_p.M219V	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	219					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TCAGTTCCCATTTCTGGATTC	0.358000													57	122					0	0	0.048971	0	0
GLB1L3	112937	broad.mit.edu	37	11	134153634	134153634	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:134153634G>C	ENST00000389887.5	+	6	3027	c.531G>C	c.(529-531)tgG>tgC	p.W177C	GLB1L3_ENST00000431683.2_Missense_Mutation_p.W177C			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	177					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCCCCAGCTGGCTCCTGCAAG	0.592000													7	8					0	0	0.029380	0	0
C2orf71	388939	broad.mit.edu	37	2	29294744	29294744	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:29294744C>T	ENST00000331664.5	-	1	2383	c.2384G>A	c.(2383-2385)gGc>gAc	p.G795D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	795					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCAGCCTATGCCCATTTTGAG	0.532000													4	177					0	0	0.009096	0	0
SPATA4	132851	broad.mit.edu	37	4	177113893	177113893	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:177113893G>A	ENST00000515234.1	-	3	1649	c.54C>T	c.(52-54)aaC>aaT	p.N18N	SPATA4_ENST00000280191.2_Silent_p.N191N			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	191					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ATAACCTAATGTTATCTTTAA	0.383000													49	57					0	0	0.048971	0	0
EYA1	2138	broad.mit.edu	37	8	72229916	72229916	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:72229916A>G	ENST00000340726.3	-	7	1066	c.427T>C	c.(427-429)Tgg>Cgg	p.W143R	EYA1_ENST00000388742.4_Missense_Mutation_p.W143R|EYA1_ENST00000303824.7_Intron|EYA1_ENST00000388741.2_Missense_Mutation_p.W109R|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.W142R|EYA1_ENST00000388740.3_Missense_Mutation_p.W110R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	143					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATGCCTGCCCACAATGCACCT	0.428000													108	241					0	0	0.048971	0	0
RTN4	57142	broad.mit.edu	37	2	55252252	55252252	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:55252252T>C	ENST00000337526.6	-	3	3226	c.2983A>G	c.(2983-2985)Ata>Gta	p.I995V	RTN4_ENST00000394611.2_Missense_Mutation_p.I789V|RTN4_ENST00000354474.6_Missense_Mutation_p.I763V|RTN4_ENST00000404909.1_Missense_Mutation_p.I789V|RTN4_ENST00000405240.1_Missense_Mutation_p.I789V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.I789V|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	995					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GCTGAAAATATAGCAGATGGT	0.378000													64	160					0	0	0.048971	0	0
ACTC1	70	broad.mit.edu	37	15	35086967	35086967	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:35086967C>A	ENST00000290378.4	-	2	698	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	15					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGCCCAGAGCCGTTGTCGCAC	0.677000													61	59					2.79145e-41	3.5621e-41	0.048971	1	0
PDE1C	5137	broad.mit.edu	37	7	32338306	32338306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:32338306G>T	ENST00000396193.1	-	1	635	c.42C>A	c.(40-42)tgC>tgA	p.C14*		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGCGCTCCGGCATTTTTTGA	0.662000													7	16					0.00307968	0.00326823	0.038147	1	0
SALL3	27164	broad.mit.edu	37	18	76754386	76754386	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:76754386G>A	ENST00000536229.3	+	1	2705	c.1996G>A	c.(1996-1998)Gac>Aac	p.D666N	SALL3_ENST00000537592.2_Missense_Mutation_p.D799N|SALL3_ENST00000575389.2_Missense_Mutation_p.D799N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTACGATGACGACATGGACGA	0.662000													15	47					0	0	0.024245	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576337	158576337	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:158576337G>C	ENST00000361284.1	+	1	109	c.109G>C	c.(109-111)Gtc>Ctc	p.V37L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V37I(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTGTATCTAGTCACTCTGAC	0.498000													123	315					0	0	0.048971	0	0
ASAP1	50807	broad.mit.edu	37	8	131249206	131249206	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:131249206A>T	ENST00000357668.1	-	3	248	c.221T>A	c.(220-222)gTg>gAg	p.V74E	ASAP1_ENST00000518721.1_Missense_Mutation_p.V74E			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	74					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGACTTCTTCACTTTCTGAAG	0.294000													37	79					0	0	0.092188	0	0
ACSS3	79611	broad.mit.edu	37	12	81472119	81472119	+	Nonsense_Mutation	SNP	G	G	T	rs144134515		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:81472119G>T	ENST00000548058.1	+	1	1130	c.220G>T	c.(220-222)Gag>Tag	p.E74*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.E74*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	74						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GACCGACCCCGAGAGGTTCTG	0.657000													12	64					9.04627e-18	1.05119e-17	0.105934	1	0
CEP192	55125	broad.mit.edu	37	18	13069788	13069788	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:13069788A>T	ENST00000506447.1	+	27	5187	c.5107A>T	c.(5107-5109)Aaa>Taa	p.K1703*	CEP192_ENST00000430049.2_Nonsense_Mutation_p.K1228*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.K1107*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1298										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTACTCCTTAAACCTGGAGA	0.378000													56	158					0	0	0.048971	0	0
CRISP1	167	broad.mit.edu	37	6	49803047	49803047	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:49803047A>T	ENST00000335847.4	-	8	833	c.732T>A	c.(730-732)tgT>tgA	p.C244*	CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000355791.2_Nonsense_Mutation_p.C244*|CRISP1_ENST00000505118.1_Nonsense_Mutation_p.C244*	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	244					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TCTCAGTGTCACACAGACAAG	0.393000													9	392					0	0	0.058154	0	0
PDK1	5163	broad.mit.edu	37	2	173451102	173451102	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:173451102C>A	ENST00000410055.1	+	9	1142	c.1042C>A	c.(1042-1044)Cgc>Agc	p.R348S	PDK1_ENST00000544863.1_Missense_Mutation_p.R193S|PDK1_ENST00000543905.1_Missense_Mutation_p.R272S|PDK1_ENST00000392571.2_Missense_Mutation_p.R368S|PDK1_ENST00000282077.2_Missense_Mutation_p.R348S	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	348	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGAGACCTCCCGCGCAGTGCC	0.443000									Autosomal Dominant Polycystic Kidney Disease				3	92					0.004672	0.00493287	0.004672	1	0
NOTCH4	4855	broad.mit.edu	37	6	32168683	32168683	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32168683C>T	ENST00000375023.3	-	23	4378	c.4240G>A	c.(4240-4242)Gcg>Acg	p.A1414T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1414					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGCCATCGCAGCAAGGAAG	0.647000													30	33					0	0	0.034045	0	0
SHPK	23729	broad.mit.edu	37	17	3526640	3526640	+	Missense_Mutation	SNP	C	C	A	rs111475678		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:3526640C>A	ENST00000225519.3	-	4	742	c.640G>T	c.(640-642)Gta>Tta	p.V214L		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	214					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CACGTCTCTACGTTCCAGCTT	0.557000													130	73					3.48894e-57	4.62229e-57	0.048971	1	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> 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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	0.572000		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)			40	32					0	0	0.048971	0	0
PHC2	1912	broad.mit.edu	37	1	33820075	33820075	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:33820075C>T	ENST00000257118.5	-	8	1535	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	PHC2_ENST00000373422.3_Silent_p.Q100Q|PHC2_ENST00000419414.2_Silent_p.Q495Q|RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000431992.1_Silent_p.Q465Q|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	494					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGACAATAGCCTGCTGATGTG	0.607000													43	63					0	0	0.098360	0	0
AHNAK	79026	broad.mit.edu	37	11	62294809	62294809	+	Silent	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:62294809T>C	ENST00000378024.4	-	5	7354	c.7080A>G	c.(7078-7080)gtA>gtG	p.V2360V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2360					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCACAGCTACTTCTGGCA	0.453000													112	384					0	0	0.048971	0	0
ZNF106	64397	broad.mit.edu	37	15	42749328	42749328	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:42749328C>A	ENST00000263805.4	-	1	402	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TCTGTGACCCCGCACACTCGG	0.488000													19	52					4.96729e-08	5.38123e-08	0.049695	1	0
MAP4K4	9448	broad.mit.edu	37	2	102452401	102452401	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:102452401T>G	ENST00000413150.2	+	9	789	c.734T>G	c.(733-735)aTt>aGt	p.I245S	MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I225S|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000324219.4_Missense_Mutation_p.I245S|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I245S|MAP4K4_ENST00000347699.4_Missense_Mutation_p.I245S|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I245S	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	245	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGTTTCTCATTCCCAGAAAC	0.408000													15	50					0	0	0.033300	0	0
TOX2	84969	broad.mit.edu	37	20	42683010	42683010	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:42683010G>T	ENST00000358131.5	+	5	958	c.750G>T	c.(748-750)aaG>aaT	p.K250N	TOX2_ENST00000423191.1_Missense_Mutation_p.K199N|TOX2_ENST00000341197.3_Missense_Mutation_p.K241N|TOX2_ENST00000372999.1_Missense_Mutation_p.K199N|TOX2_ENST00000435864.2_Missense_Mutation_p.K119N	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	250	Poly-Lys.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGAAAAAGAAGGACCCCAATG	0.542000													4	37					0.014758	0.0154254	0.014758	1	0
ST14	6768	broad.mit.edu	37	11	130058529	130058529	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:130058529C>T	ENST00000278742.5	+	3	764	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	116					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTTTGTAAGCCTGGCCAGCAA	0.572000													54	57					0	0	0.048971	0	0
CAPZB	832	broad.mit.edu	37	1	19670883	19670884	+	Frame_Shift_Ins	INS	-	-	A	rs138529514	by1000genomes	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:19670883_19670884insA	ENST00000401084.2	-	8	832_833	c.699_700insT	c.(697-702)ttgaaafs	p.LK233fs	CAPZB_ENST00000375144.1_Frame_Shift_Ins_p.LK221fs|CAPZB_ENST00000375142.1_Frame_Shift_Ins_p.LK233fs|CAPZB_ENST00000433834.1_Frame_Shift_Ins_p.LK262fs|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000264202.6_Frame_Shift_Ins_p.LK233fs	NM_004930.3	NP_004921.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	233					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTTGTTTTTCCAAAGTAGATCT	0.485											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	98	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738856	65738857	+	RNA	INS	-	-	TA			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:65738856_65738857insTA	ENST00000377977.3	+	0	862																											ATTTTTTTTTTTTTTTTGTCCA	0.302													5	9	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													8	202	---	---	---	---					
CUL9	23113	broad.mit.edu	37	6	43153942	43153943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:43153942_43153943insC	ENST00000252050.4	+	4	1084_1085	c.1000_1001insC	c.(1000-1002)ccgfs	p.P334fs	CUL9_ENST00000354495.3_Frame_Shift_Ins_p.P334fs|CUL9_ENST00000372647.2_Frame_Shift_Ins_p.P334fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	334					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCCCCGGCCAACCCGGTCCATC	0.614													40	253	---	---	---	---					
JHDM1D-AS1	100134229	broad.mit.edu	37	7	139878082	139878089	+	RNA	DEL	TCCCTCCC	TCCCTCCC	-	rs57191915		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:139878082_139878089delTCCCTCCC	ENST00000566699.1	+	0	1022_1029					NR_024451.1																						cttccttccttccctccctccCTTTCCT	0.471													4	3	---	---	---	---					
PFKP	5214	broad.mit.edu	37	10	3178723	3178724	+	Frame_Shift_Ins	INS	-	-	A	rs34180069	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:3178723_3178724insA	ENST00000381075.2	+	24	2507_2508	c.2283_2284insA	c.(2281-2286)gatgtcfs	p.DV761fs	PFKP_ENST00000381125.4_Frame_Shift_Ins_p.DV769fs|PFKP_ENST00000381072.1_Frame_Shift_Ins_p.DV187fs	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	769					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCAGCTATGACGTGTCGGACTC	0.564													15	35	---	---	---	---					
CD81-AS1	101927682	broad.mit.edu	37	11	2356350	2356351	+	RNA	INS	-	-	T	rs143643426		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:2356350_2356351insT	ENST00000413483.1	-	0	407																											ataacagtttcttttTTTTTTT	0.243													7	1	---	---	---	---					
KRTAP5-11	440051	broad.mit.edu	37	11	71293807	71293827	+	In_Frame_Del	DEL	GAGCCACAGCCCCCACTGCCG	GAGCCACAGCCCCCACTGCCG	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:71293807_71293827delGAGCCACAGCCCCCACTGCCG	ENST00000398530.1	-	1	94_114	c.57_77delCGGCAGTGGGGGCTGTGGCTC	c.(55-78)tct>tc	p.SGSGGCGS19del	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	19						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCACAGCCAGAGCCACAGCCCCCACTGCCGGAGCCACAGC	0.638													45	100	---	---	---	---					
EPS8	2059	broad.mit.edu	37	12	15776222	15776223	+	Splice_Site	INS	-	-	T	rs147977740		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:15776222_15776223insT	ENST00000281172.5	-	20	2662		c.e20-1		EPS8_ENST00000540613.1_Splice_Site|EPS8_ENST00000542903.1_Splice_Site|EPS8_ENST00000543612.1_Splice_Site|EPS8_ENST00000543523.1_Splice_Site	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8						cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ATTGACAGTCCTAAAAAAAAAA	0.371													8	126	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100502306	100502319	+	Frame_Shift_Del	DEL	GGAGATAAATTTTT	GGAGATAAATTTTT	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:100502306_100502319delGGAGATAAATTTTT	ENST00000279907.7	-	2	264_277	c.52_65delAAAAATTTATCTCC	c.(52-66)tfs	p.KNLSP18fs	UHRF1BP1L_ENST00000356828.3_Frame_Shift_Del_p.KNLSP18fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	18										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TATCTTGTCAGGAGATAAATTTTTGGTAAATCTG	0.313													30	88	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57511141	57511160	+	RNA	DEL	AAGGAAGGAAGGAAGGAAGG	AAGGAAGGAAGGAAGGAAGG	-	rs58471772	by1000genomes	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:57511141_57511160delAAGGAAGGAAGGAAGGAAGG	ENST00000554725.1	+	0	344																											ggaaggaagaaaggaaggaaggaaggaaggaaggaaggaa	0.445													6	3	---	---	---	---					
AURKB	9212	broad.mit.edu	37	17	8108275	8108276	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:8108275_8108276insC	ENST00000316199.6	-	9	1028_1029	c.951_952insG	c.(949-954)ctccctfs	p.LP317fs	AURKB_ENST00000578549.1_Frame_Shift_Ins_p.LP284fs|AURKB_ENST00000534871.1_Frame_Shift_Ins_p.LP275fs|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000585124.1_Frame_Shift_Ins_p.LP316fs			Q96GD4	AURKB_HUMAN	aurora kinase B	316	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TGGGCCAGGGGCAGCCGTTCCG	0.629													8	96	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50156709	50156711	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:50156709_50156711delGGA	ENST00000360565.3	+	7	3187_3189	c.3063_3065delGGA	c.(3061-3066)gcg>gc	p.AE1021del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1021	Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAGGTGGGGCggaggaggaggag	0.655													3	5	---	---	---	---					
ADAM33	80332	broad.mit.edu	37	20	3655704	3655704	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:3655704delC	ENST00000356518.2	-	4	544	c.303delG	c.(301-303)ggfs	p.G101fs	ADAM33_ENST00000350009.2_Frame_Shift_Del_p.G101fs|ADAM33_ENST00000379861.4_Frame_Shift_Del_p.G101fs	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	101					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCACTGGCTGCCCATCTGGGC	0.612													14	18	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11047531	11047531	+	RNA	DEL	A	A	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr21:11047531delA	ENST00000470054.1	-	0	723									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGTTGAAGACAAAAAGTATGA	0.348													81	1073	---	---	---	---					
BID	637	broad.mit.edu	37	22	18222188	18222189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:18222188_18222189insT	ENST00000317361.7	-	4	753_754	c.427_428insA	c.(427-429)ggafs	p.G143fs	BID_ENST00000473439.1_5'UTR|BID_ENST00000342111.5_Frame_Shift_Ins_p.D129fs|BID_ENST00000399765.1_Start_Codon_Ins|BID_ENST00000399774.3_Frame_Shift_Ins_p.G97fs|BID_ENST00000399767.1_Start_Codon_Ins|BID_ENST00000551952.1_Frame_Shift_Ins_p.G97fs	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	97					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GCTACGGTCCATGCTGTCCCCG	0.629													23	56	---	---	---	---					
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Splice_Site	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs71805922	by1000genomes	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000404488.3	+	6	727_756	c.592_splice	c.e6-1	p.198_splice	CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	197						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622													7	19	---	---	---	---