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
TAS1R3	83756	broad.mit.edu	37	1	1267823	1267823	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:1267823G>A	ENST00000339381.5	+	3	944	c.912G>A	c.(910-912)ctG>ctA	p.L304L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	304					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	AGGCCTGGCTGACCTCTGACC	0.672000													9	3					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46684726	46684726	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:46684726C>T	ENST00000274793.7	-	3	413	c.217G>A	c.(217-219)Gat>Aat	p.D73N	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D73N|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000538237.1_Missense_Mutation_p.D28N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	73					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTAGTGTGATCAAACATTAAG	0.398000													35	64					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32800276	32800276	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:32800276C>T	ENST00000421745.2	+	66	13332	c.13198C>T	c.(13198-13200)Cgg>Tgg	p.R4400W		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4400					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGAATTGCTTCGGGCCATTGC	0.453000													59	101					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83795846	83795846	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:83795846G>A	ENST00000432794.1	-	6	720	c.557C>T	c.(556-558)tCa>tTa	p.S186L	SEC31A_ENST00000500777.2_Missense_Mutation_p.S186L|SEC31A_ENST00000348405.4_Missense_Mutation_p.S186L|SEC31A_ENST00000448323.1_Missense_Mutation_p.S186L|SEC31A_ENST00000395310.2_Missense_Mutation_p.S186L|SEC31A_ENST00000508502.1_Missense_Mutation_p.S186L|SEC31A_ENST00000513858.1_Missense_Mutation_p.S186L|SEC31A_ENST00000326950.5_Missense_Mutation_p.S186L|SEC31A_ENST00000443462.2_Missense_Mutation_p.S181L|SEC31A_ENST00000509142.1_Missense_Mutation_p.S186L|SEC31A_ENST00000505984.1_Missense_Mutation_p.S186L|SEC31A_ENST00000508479.1_Missense_Mutation_p.S186L|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Missense_Mutation_p.S186L|SEC31A_ENST00000505472.1_Missense_Mutation_p.S186L|SEC31A_ENST00000311785.7_Missense_Mutation_p.S186L			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	186	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGGACTGGCTGATGCTAAAAT	0.418000													39	61					0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40236042	40236042	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:40236042C>T	ENST00000327582.5	-	1	978	c.886G>A	c.(886-888)Gag>Aag	p.E296K	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	296					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CTGGCGTCCTCTTCCTTTCCA	0.517000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	36					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18393285	18393285	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:18393285C>T	ENST00000440756.2	-	16	3220	c.3118G>A	c.(3118-3120)Gaa>Aaa	p.E1040K	PSD3_ENST00000428502.2_Missense_Mutation_p.E367K|PSD3_ENST00000327040.8_Missense_Mutation_p.E1038K|PSD3_ENST00000523619.1_Missense_Mutation_p.E973K|PSD3_ENST00000286485.8_Missense_Mutation_p.E504K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1039					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTGGTGTTTCAGGTCGGTGA	0.468000													16	75					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105192072	105192072	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:105192072C>T	ENST00000262903.4	-	22	2752	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	HACE1_ENST00000369125.2_Missense_Mutation_p.E611K|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	826	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ACTCTCTCCTCTTGAGTAATG	0.338000													37	45					0	0	1	0	0
MOSPD2	158747	broad.mit.edu	37	X	14910877	14910877	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chrX:14910877G>A	ENST00000380492.3	+	3	200	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E38K	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	38						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					ACGTGATGTTGAAAGGCTACA	0.348000													58	7					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52412693	52412693	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:52412693C>G	ENST00000420323.2	+	47	7535	c.7274C>G	c.(7273-7275)tCc>tGc	p.S2425C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2425	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCATCACCTCCCAGCTGCTG	0.607000													58	88					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156375	106156375	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:106156375C>G	ENST00000513237.1	+	3	2136	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V	TET2_ENST00000545826.1_Missense_Mutation_p.L426V|TET2_ENST00000394764.1_Missense_Mutation_p.L426V|TET2_ENST00000380013.4_Missense_Mutation_p.L426V|TET2_ENST00000305737.2_Missense_Mutation_p.L426V|TET2_ENST00000540549.1_Missense_Mutation_p.L426V|TET2_ENST00000413648.2_Missense_Mutation_p.L426V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	426					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAAAAGCACTCTGAATGGTGG	0.478000			"""Mis N, F"""		MDS								30	48					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411796	63411796	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chrX:63411796C>G	ENST00000330258.3	-	2	1643	c.1371G>C	c.(1369-1371)caG>caC	p.Q457H	AMER1_ENST00000374869.3_Missense_Mutation_p.Q457H|AMER1_ENST00000403336.1_Missense_Mutation_p.Q457H	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GCTGGTCACTCTGAGGAGTCA	0.552000													15	9					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195535	18195535	+	Silent	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:18195535G>T	ENST00000314254.3	+	1	1152	c.732G>T	c.(730-732)ctG>ctT	p.L244L	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	244						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGATGCACCTGAATTTGGAAG	0.507000													15	29					1.15088e-07	1.16988e-07	1	1	0
SCUBE2	57758	broad.mit.edu	37	11	9091016	9091016	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:9091016G>T	ENST00000457346.2	-	5	618	c.544C>A	c.(544-546)Cac>Aac	p.H182N	SCUBE2_ENST00000309263.3_Missense_Mutation_p.H182N|SCUBE2_ENST00000520467.1_Missense_Mutation_p.H182N|SCUBE2_ENST00000450649.2_Missense_Mutation_p.H182N			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	182	EGF-like 4 (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTACAGCCGTGATCCTTATTC	0.582000													56	53					5.82218e-30	6.3208e-30	1	1	0
KCNA3	3738	broad.mit.edu	37	1	111216763	111216763	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:111216763G>C	ENST00000369769.2	-	1	892	c.669C>G	c.(667-669)ctC>ctG	p.L223L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	223						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTACTCGAAGAGCAGCCACA	0.677000													32	53					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100342121	100342121	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:100342121G>C	ENST00000294724.4	+	11	1869	c.1391G>C	c.(1390-1392)gGa>gCa	p.G464A	AGL_ENST00000370165.3_Missense_Mutation_p.G464A|AGL_ENST00000370163.3_Missense_Mutation_p.G464A|AGL_ENST00000361302.3_Missense_Mutation_p.G448A|AGL_ENST00000370161.2_Missense_Mutation_p.G448A|AGL_ENST00000361915.3_Missense_Mutation_p.G464A|AGL_ENST00000361522.4_Missense_Mutation_p.G447A|AGL_ENST00000477753.1_3'UTR	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	464					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGGTAATGGGAGATGATCCT	0.388000													22	57					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			28	21					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44100407	44100407	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:44100407G>A	ENST00000494774.1	+	13	1209	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	DBNL_ENST00000452943.1_Silent_p.E371E|DBNL_ENST00000490734.2_Silent_p.E301E|DBNL_ENST00000440166.1_Silent_p.E292E|DBNL_ENST00000456905.1_Silent_p.E347E|DBNL_ENST00000468694.1_Silent_p.E404E|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000448521.1_Silent_p.E395E	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	395	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTGACCCCGAGAACCTCATCA	0.602000													29	37					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8721017	8721017	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:8721017G>A	ENST00000378641.3	+	22	2810	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E779K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E779K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	779					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTAAGGAATGAAAGGAACCA	0.398000													38	68					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318510	3318510	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:3318510G>A	ENST00000336727.3	+	2	1517	c.613G>A	c.(613-615)Gat>Aat	p.D205N	RGS12_ENST00000382788.3_Missense_Mutation_p.D205N|RGS12_ENST00000344733.5_Missense_Mutation_p.D205N|RGS12_ENST00000543385.1_Missense_Mutation_p.D205N	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	205						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTTATTCATGATGATTCGGT	0.393000													25	264					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88938537	88938537	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr9:88938537C>G	ENST00000375961.2	-	13	2342	c.2128G>C	c.(2128-2130)Gaa>Caa	p.E710Q	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E587Q|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E710Q			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	710					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCCATTTCTTCTTTTGGTGGG	0.438000													58	17					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:72685542G>A	ENST00000425256.1	-	0	116																											ACGTTACCATGACAAAAGCAG	0.463000													5	157					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26888587	26888587	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:26888587C>T	ENST00000308360.7	-	6	904	c.529G>A	c.(529-531)Gag>Aag	p.E177K	PIGS_ENST00000395346.2_Missense_Mutation_p.E169K|PIGS_ENST00000543734.1_Missense_Mutation_p.E116K|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	177					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TTAAAGGCCTCCCGGTGCATT	0.577000													8	21					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992045	72992045	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:72992045G>A	ENST00000268489.5	-	2	2672	c.2000C>T	c.(1999-2001)tCg>tTg	p.S667L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	667					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTCTTACACGAGTTACGAGA	0.622000													16	33					0	0	1	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64506319	64506319	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:64506319G>A	ENST00000303052.7	-	6	872	c.449C>T	c.(448-450)tCt>tTt	p.S150F	CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.S132F|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.S150F|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.S150F	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	150	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTCCATTCGAGAAAGCTGAAA	0.363000													34	54					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17640976	17640976	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:17640976C>G	ENST00000377813.1	-	3	480	c.177G>C	c.(175-177)aaG>aaC	p.K59N	RRBP1_ENST00000246043.4_Missense_Mutation_p.K59N|RRBP1_ENST00000360807.4_Missense_Mutation_p.K59N|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.K59N			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	59					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ccttctttttcttctCGACTT	0.458000													13	11					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991760	21991760	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21991760G>A	ENST00000327430.3	-	2	2396	c.2102C>T	c.(2101-2103)aCc>aTc	p.T701I	SALL2_ENST00000450879.2_Missense_Mutation_p.T564I|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	701							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GACAGCATTGGTGAACTTCTT	0.602000													23	34					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406659	55406659	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:55406659A>T	ENST00000314612.2	+	1	826	c.826A>T	c.(826-828)Att>Ttt	p.I276F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTATACCATCATTGCTCCCAT	0.398000													39	54					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74640924	74640924	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:74640924G>A	ENST00000422840.2	-	1	68	c.69C>T	c.(67-69)ttC>ttT	p.F23F	GLG1_ENST00000205061.5_Silent_p.F23F|GLG1_ENST00000447066.2_Silent_p.F23F	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	23						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCCCGGCCGCGAATAGCAGCA	0.701000													3	5					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096808	73096808	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:73096808C>T	ENST00000450736.2	+	4	1465	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	SLC16A5_ENST00000580123.1_Silent_p.F350F|SLC16A5_ENST00000538213.2_Silent_p.F390F|SLC16A5_ENST00000329783.4_Silent_p.F350F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	350					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCCTCATCTTCCAGGTTCTCA	0.597000													32	43					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1467046	1467046	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:1467046G>A	ENST00000535453.1	+	14	5459	c.3746G>A	c.(3745-3747)cGc>cAc	p.R1249H	APC2_ENST00000233607.2_Missense_Mutation_p.R1249H|APC2_ENST00000238483.4_Missense_Mutation_p.R975H|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1249	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGGGAGCGCTGCCGGCTG	0.692000													6	11					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36981875	36981875	+	Splice_Site	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:36981875G>C	ENST00000274963.8	+	6	993	c.822G>C	c.(820-822)caG>caC	p.Q274H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	274	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCGATGCCCAGAGTGAGGACA	0.572000													20	22					0	0	1	0	0
VPS29	51699	broad.mit.edu	37	12	110930913	110930913	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:110930913C>G	ENST00000549578.1	-	3	384	c.319G>C	c.(319-321)Gat>Cat	p.D107H	VPS29_ENST00000447578.2_Missense_Mutation_p.D12H|VPS29_ENST00000360579.7_Missense_Mutation_p.D111H|VPS29_ENST00000549970.1_Missense_Mutation_p.D12H|VPS29_ENST00000552130.2_Missense_Mutation_p.D12H|VPS29_ENST00000546588.1_Missense_Mutation_p.D139H	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	107					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATGTCCACATCAAATTGCCTC	0.418000													23	35					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318695	3318695	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:3318695G>A	ENST00000336727.3	+	2	1702	c.798G>A	c.(796-798)caG>caA	p.Q266Q	RGS12_ENST00000382788.3_Silent_p.Q266Q|RGS12_ENST00000344733.5_Silent_p.Q266Q|RGS12_ENST00000543385.1_Silent_p.Q266Q	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	266	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGCAGAGCAGAAAATCCACT	0.607000													9	110					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338486	103338486	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr13:103338486G>C	ENST00000267273.6	-	4	695	c.690C>G	c.(688-690)gaC>gaG	p.D230E		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	230							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AAAATTCATAGTCGGTGCTGA	0.438000													22	24					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217154	44217154	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:44217154C>A	ENST00000371554.1	+	3	402	c.188C>A	c.(187-189)tCg>tAg	p.S63*	HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.S63*|HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.S63*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	63					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGACCCTTCGAAGTTGGAC	0.473000													26	34					4.43304e-23	4.76468e-23	1	1	0
PSMD4	5710	broad.mit.edu	37	1	151237991	151237991	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:151237991C>T	ENST00000368884.3	+	6	640	c.560C>T	c.(559-561)cCg>cTg	p.P187L	PSMD4_ENST00000368881.4_Missense_Mutation_p.P187L	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	187	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	p.P187L(1)		breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCAGTTCTCCGATTTTGGCT	0.527000													49	64					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318690	3318690	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:3318690G>T	ENST00000336727.3	+	2	1697	c.793G>T	c.(793-795)Gag>Tag	p.E265*	RGS12_ENST00000382788.3_Nonsense_Mutation_p.E265*|RGS12_ENST00000344733.5_Nonsense_Mutation_p.E265*|RGS12_ENST00000543385.1_Nonsense_Mutation_p.E265*	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	265	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGCGGGCAGAGCAGAAAAT	0.607000													9	113					0.00621372	0.00622817	1	1	0
ZNF184	7738	broad.mit.edu	37	6	27419943	27419943	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:27419943C>T	ENST00000211936.6	-	6	1679	c.1395G>A	c.(1393-1395)ctG>ctA	p.L465L	ZNF184_ENST00000377419.1_Silent_p.L465L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TATGAATTTTCAGGTGTTGAG	0.413000													43	47					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59853901	59853901	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:59853901G>C	ENST00000259008.2	-	14	2225	c.1958C>G	c.(1957-1959)tCa>tGa	p.S653*	BRIP1_ENST00000577598.1_Nonsense_Mutation_p.S653*|BRIP1_ENST00000583837.1_5'UTR	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	653					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTGGGGCCTGACCCAATGGT	0.403000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					41	50					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11955432	11955432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:11955432G>T	ENST00000339865.5	+	15	2378	c.1615G>T	c.(1615-1617)Gag>Tag	p.E539*	USP47_ENST00000527733.1_Nonsense_Mutation_p.E607*|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Nonsense_Mutation_p.E627*	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	627					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AAATAAATTGGAGGTTCATAA	0.294000													44	70					2.65591e-33	2.89065e-33	1	1	0
LRRC16B	90668	broad.mit.edu	37	14	24532367	24532367	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:24532367G>T	ENST00000342740.5	+	30	2899	c.2745G>T	c.(2743-2745)aaG>aaT	p.K915N	LRRC16B_ENST00000334420.7_Missense_Mutation_p.K11N	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	915										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCTGCCGCAAGATTCGGCCGG	0.562000													16	19					3.45872e-05	3.49112e-05	1	1	0
RIPK4	54101	broad.mit.edu	37	21	43171257	43171257	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr21:43171257C>T	ENST00000352483.2	-	3	687	c.623G>A	c.(622-624)aGc>aAc	p.S208N	RIPK4_ENST00000544709.1_Splice_Site_p.S145N|RIPK4_ENST00000542057.1_Splice_Site_p.S145N|RIPK4_ENST00000332512.3_Splice_Site_p.S208N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	208						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGTCACACACCTGTATACATC	0.592000													9	38					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94816726	94816726	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:94816726G>A	ENST00000371552.4	+	21	2229	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	EXOC6_ENST00000371547.4_Missense_Mutation_p.D755N|EXOC6_ENST00000260762.6_Missense_Mutation_p.D739N|EXOC6_ENST00000443748.2_Missense_Mutation_p.D636N	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	739					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTACCTAGCTGATTATGGGCA	0.388000													30	34					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961540	85961540	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:85961540G>C	ENST00000383699.3	+	6	1174	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q	CADM2_ENST00000405615.2_Missense_Mutation_p.E176Q|CADM2_ENST00000407528.2_Missense_Mutation_p.E174Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	174	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATATTTAAAAGAAGAGGATGC	0.373000													11	22					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386390	118386390	+	RNA	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:118386390G>A	ENST00000537242.1	+	0	372				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTTTGAAGTGGAGAAGGTGAA	0.512000													7	7					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310776	171310776	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:171310776G>C	ENST00000367749.3	+	10	1805	c.1475G>C	c.(1474-1476)aGa>aCa	p.R492T		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	492					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGTGGGACAGAACATTGAAA	0.493000													30	42					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31598093	31598093	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:31598093G>A	ENST00000399332.1	-	25	4972	c.4484C>T	c.(4483-4485)tCt>tTt	p.S1495F	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1495F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1495	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTTAATTCAGATACTGAACT	0.448000													28	24					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38966937	38966937	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:38966937G>A	ENST00000302328.3	-	5	879	c.681C>T	c.(679-681)ttC>ttT	p.F227F	SCN11A_ENST00000444237.2_Silent_p.F227F|SCN11A_ENST00000456224.3_Silent_p.F227F|SCN11A_ENST00000450244.1_Silent_p.F227F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	227					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCAAAGCTCTGAACACACGGA	0.403000													24	29					0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91545329	91545329	+	Silent	SNP	G	G	A	rs144383698		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:91545329G>A	ENST00000333371.3	-	18	1709	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	VPS33B_ENST00000535843.1_Silent_p.L361L|VPS33B_ENST00000535906.1_Silent_p.L425L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	452					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCACGGCTGTGAGGGTGTCCC	0.577000													27	34					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70189984	70189984	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:70189984C>G	ENST00000253925.7	+	15	2132	c.1917C>G	c.(1915-1917)atC>atG	p.I639M	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.I639M	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	639					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGGACGCCATCAACAAAGAGA	0.552000													3	10					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79350055	79350055	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:79350055G>A	ENST00000233735.1	+	5	513	c.410G>A	c.(409-411)tGt>tAt	p.C137Y		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	137	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.C137F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCTGGCTACTGTGTGAGCCTG	0.567000													24	41					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3627240	3627240	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:3627240C>G	ENST00000325418.4	+	1	30	c.11C>G	c.(10-12)tCg>tGg	p.S4W	ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	4					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ATGGCGGCTTCGCTCCCGGGA	0.726000													17	19					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477812	42477812	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:42477812C>T	ENST00000434000.1	-	9	1681	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	GPATCH8_ENST00000591680.1_Missense_Mutation_p.E545K			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	545						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCAGTGCTTTCATCTTTGCTC	0.443000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	22					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250698	18250698	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:18250698C>G	ENST00000377369.2	+	3	723	c.450C>G	c.(448-450)ctC>ctG	p.L150L	SLC39A12_ENST00000377371.3_Silent_p.L150L|SLC39A12_ENST00000539911.1_Silent_p.L16L|SLC39A12_ENST00000377374.4_Silent_p.L150L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	150					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TACTGAGCCTCAGGCAGGATG	0.393000													21	65					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74657092	74657092	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:74657092C>G	ENST00000305557.5	-	7	1164	c.579G>C	c.(577-579)ctG>ctC	p.L193L	RTKN_ENST00000272430.5_Silent_p.L206L|RTKN_ENST00000233330.6_Silent_p.L156L	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	206					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GGCCGCCAGTCAGGGCCCCCT	0.652000													31	46					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89616175	89616175	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:89616175C>G	ENST00000294671.2	-	6	847	c.709G>C	c.(709-711)Gac>Cac	p.D237H		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	237						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		ATTGGCCGGTCAAAGACAAAG	0.393000													43	73					0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14141551	14141551	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:14141551G>A	ENST00000431365.2	+	2	277	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	RLN3_ENST00000585987.1_3'UTR	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	74						extracellular region	hormone activity			endometrium(1)|lung(4)	5						AGATGCTGATGAAGACAGTCT	0.597000													32	48					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010650	70010650	+	RNA	SNP	A	A	G	rs144900726	by1000genomes	TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:70010650A>G	ENST00000531894.1	-	0	3748					NR_003610.1																						AGGGCCGAAGAAGGGAATGTT	0.468000													4	60					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544926	23544926	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:23544926C>G	ENST00000300619.7	-	4	1060	c.855G>C	c.(853-855)aaG>aaC	p.K285N	ZNF91_ENST00000397082.2_Missense_Mutation_p.K253N|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTGTATCCTCTTATGTCTAG	0.383000													56	83					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194365379	194365379	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:194365379C>T	ENST00000265245.5	-	13	2034	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	574					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ATTTTTATTTCATCACTGTTC	0.373000													26	27					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920483	4920483	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:4920483G>A	ENST00000433855.1	+	1	2142	c.1276G>A	c.(1276-1278)Ggg>Agg	p.G426R	KCNA6_ENST00000280684.3_Missense_Mutation_p.G426R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	426						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGTAGGTTACGGGGACATGTA	0.592000										HNSCC(72;0.22)			22	41					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37449607	37449607	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:37449607C>G	ENST00000234170.5	-	4	2126	c.1981G>C	c.(1981-1983)Gag>Cag	p.E661Q		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	661					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCCTCTGTCTCAAGTTTTTTC	0.358000													27	36					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143095510	143095510	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:143095510C>T	ENST00000275815.3	-	7	1454	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	456	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTTCTTTCTTCACCAGTCTCA	0.542000													19	27					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37563801	37563801	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:37563801G>C	ENST00000300651.6	-	17	4896	c.4673C>G	c.(4672-4674)tCa>tGa	p.S1558*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1558					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCTGAGCCTTGAGGGTCTGTC	0.448000										HNSCC(31;0.082)			33	76					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49397710	49397710	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:49397710C>T	ENST00000418115.1	-	5	898	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	172					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GTAGCCATTTCAAAAACCTCT	0.483000													59	60					0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13873232	13873232	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:13873232G>A	ENST00000586600.1	+	10	1196	c.693G>A	c.(691-693)ctG>ctA	p.L231L	CCDC130_ENST00000221554.8_Silent_p.L231L|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	231					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CGGCTCTGCTGAAGTTCCACA	0.642000													6	19					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43661949	43661949	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:43661949C>G	ENST00000396976.2	-	1	297	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	ZSCAN29_ENST00000396972.1_Missense_Mutation_p.E55Q|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.E54Q|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.E54Q|TUBGCP4_ENST00000570081.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACAATCTGCTCCTTGGTGCGC	0.552000													19	32					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209296	140209296	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:140209296G>A	ENST00000529310.1	+	1	1734	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.A540A(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGACGCGGGCGTGCCGC	0.682000													79	68					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11973776	11973776	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:11973776C>A	ENST00000356352.2	-	19	4025	c.3552G>T	c.(3550-3552)aaG>aaT	p.K1184N	UPF2_ENST00000357604.5_Missense_Mutation_p.K1184N|UPF2_ENST00000397053.2_Missense_Mutation_p.K1184N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1184	Interaction with UPF1.|Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CATTAAGGATCTTAAACTGGG	0.393000													24	47					6.32553e-13	6.63334e-13	1	1	0
RPP30	10556	broad.mit.edu	37	10	92654594	92654594	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:92654594G>C	ENST00000413330.1	+	7	530	c.495G>C	c.(493-495)atG>atC	p.M165I	RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Missense_Mutation_p.M165I	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	165					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						ACTCCACAATGAGAAGGTATA	0.403000													51	91					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59922637	59922637	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:59922637C>T	ENST00000371218.4	+	6	743	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Missense_Mutation_p.L187F|FGGY_ENST00000371212.1_Missense_Mutation_p.L99F	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	187					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCTTAGGTCTCTCTGCTCCCT	0.403000													12	15					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122720408	122720408	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:122720408C>T	ENST00000267199.4	-	11	1477	c.1365G>A	c.(1363-1365)ccG>ccA	p.P455P	RP11-512M8.5_ENST00000535844.1_Silent_p.P416P	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	455					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCCCCGTCTGCGGTTTCAGCA	0.498000													5	191					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139610971	139610971	+	Silent	SNP	T	T	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:139610971T>C	ENST00000303045.6	-	61	4802	c.4356A>G	c.(4354-4356)ccA>ccG	p.P1452P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P1432P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1452	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCTCAGTCCTGGAAATCCCG	0.612000										HNSCC(7;0.00092)			20	19					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				55	1					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731307	21731307	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:21731307G>T	ENST00000584755.1	+	2	1006	c.609G>T	c.(607-609)aaG>aaT	p.K203N	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GCAGCTGGAAGATGGCGGTAC	0.527000													28	50					4.22769e-11	4.35918e-11	1	1	0
CDH11	1009	broad.mit.edu	37	16	65038572	65038572	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:65038572G>A	ENST00000394156.3	-	3	654	c.201C>T	c.(199-201)acC>acT	p.T67T	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Silent_p.T67T|CDH11_ENST00000566827.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	67	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGTCAGGCCCGGTGTACTCCT	0.587000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	13					0	0	1	0	0
ZNF580	51157	broad.mit.edu	37	19	56153888	56153888	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:56153888C>T	ENST00000543039.1	+	1	471	c.14C>T	c.(13-15)cCg>cTg	p.P5L	ZNF580_ENST00000545125.1_Missense_Mutation_p.P5L|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000325333.5_Missense_Mutation_p.P5L	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	5	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTGCTGCTGCCGCCGCGGCCA	0.622000													19	16					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005953	74005953	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:74005953C>T	ENST00000358602.4	-	15	2496	c.2380G>A	c.(2380-2382)Gat>Aat	p.D794N	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D681N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	794					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCTGTACATCCTGGCTGTTT	0.453000													30	43					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991311	47991311	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:47991311G>C	ENST00000371741.4	-	2	952	c.786C>G	c.(784-786)ctC>ctG	p.L262L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	262					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			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)			CAATGGCATTGAGTGGGCCCT	0.547000													17	42					0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82750926	82750926	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:82750926G>A	ENST00000256151.7	-	2	688	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						AGATGTTTCAGATTATCTGGG	0.398000													36	65					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61299404	61299404	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:61299404C>T	ENST00000217159.1	+	9	1884	c.1679C>T	c.(1678-1680)tCt>tTt	p.S560F	SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.S560F	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	560					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			AATCTTTCCTCTGGTTTTGGC	0.502000											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	52					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	G	rs121913274		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:178936092A>G	ENST00000263967.3	+	10	1791	c.1634A>G	c.(1633-1635)gAg>gGg	p.E545G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353000	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			28	20					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61912094	61912094	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:61912094G>A	ENST00000448276.2	-	6	1055	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	SMARCD2_ENST00000323347.10_Silent_p.L216L|SMARCD2_ENST00000225742.9_Silent_p.L189L	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	264					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GGCCCGTACAGCTCCTTGTCC	0.552000											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	71					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64794697	64794697	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:64794697C>T	ENST00000422803.1	+	3	2251	c.1937C>T	c.(1936-1938)aCa>aTa	p.T646I	AFTPH_ENST00000409183.1_Splice_Site_p.T277I|AFTPH_ENST00000238856.4_Splice_Site_p.T646I|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238855.7_Splice_Site_p.T646I|AFTPH_ENST00000409933.1_Splice_Site_p.T646I			Q6ULP2	AFTIN_HUMAN	aftiphilin	646					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTGATGCAGACAGCTTTATTA	0.398000													55	93					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													3	19					0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26370796	26370796	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:26370796C>A	ENST00000374276.3	-	3	647	c.411G>T	c.(409-411)caG>caT	p.Q137H	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374278.3_Intron	NM_001004434.1	NP_001004434.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	90					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CACCAGCTCTCTGCCAGCCAA	0.577000													35	7					9.62906e-15	1.01223e-14	1	1	0
CASC5	57082	broad.mit.edu	37	15	40902462	40902462	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:40902462C>T	ENST00000346991.5	+	6	607	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	CASC5_ENST00000527044.1_Missense_Mutation_p.H73Y|CASC5_ENST00000399668.2_Missense_Mutation_p.H73Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	73	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GACGGAGTCTCATATGAAAAT	0.308000													39	60					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72347207	72347207	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr18:72347207C>T	ENST00000299687.5	+	1	4232	c.4232C>T	c.(4231-4233)tCt>tTt	p.S1411F	ZNF407_ENST00000309902.6_Missense_Mutation_p.S1411F|ZNF407_ENST00000582337.1_Missense_Mutation_p.S1411F|ZNF407_ENST00000577538.1_Missense_Mutation_p.S1411F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTGGTGAGTCTACACGAATT	0.458000													18	36					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158539855	158539855	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:158539855C>T	ENST00000415822.2	+	11	1291	c.1150C>T	c.(1150-1152)Ctt>Ttt	p.L384F	MFSD1_ENST00000392813.4_Missense_Mutation_p.L345F|MFSD1_ENST00000264266.8_Missense_Mutation_p.L335F	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	335					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CATCTGGGTTCTTTGCGCAGT	0.502000													31	35					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814088	60814088	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:60814088C>T	ENST00000544856.2	-	7	1516	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	MARCH10_ENST00000583600.1_Missense_Mutation_p.D419N|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.D381N|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.D381N			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	381							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GATTCCCTATCAGGCAGCCCG	0.542000													49	71					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	49					0	0	1	0	0
STRAP	11171	broad.mit.edu	37	12	16048417	16048417	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:16048417C>T	ENST00000419869.2	+	6	938	c.625C>T	c.(625-627)Cat>Tat	p.H209Y	STRAP_ENST00000538352.1_Missense_Mutation_p.H115Y|STRAP_ENST00000025399.6_Missense_Mutation_p.H222Y	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	209					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TATTGCTTTTCATAGTGCAGT	0.294000													28	34					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141558	8141558	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:8141558G>C	ENST00000315684.8	-	4	445	c.438C>G	c.(436-438)ctC>ctG	p.L146L	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	146					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCAGGTCTATGAGCTAAGAAA	0.507000													12	18					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670560	74670560	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:74670560G>A	ENST00000609362.1	+	4	866	c.829G>A	c.(829-831)Gat>Aat	p.D277N	FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D290N|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ATTTTATATGGATCATAAATC	0.388000													22	30					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526811	97526811	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:97526811G>A	ENST00000305476.5	-	15	2186	c.2054C>T	c.(2053-2055)tCa>tTa	p.S685L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	685					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CCGGCGCAATGACAGCACCAG	0.687000													15	24					0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153247637	153247637	+	Missense_Mutation	SNP	G	G	A	rs141790051	byFrequency	TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chrX:153247637G>A	ENST00000369982.4	+	2	871	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	42						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACTACGCCGAGGCGCCCGT	0.652000													27	22					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3047943	3047943	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:3047943C>G	ENST00000397114.3	-	10	1213	c.837G>C	c.(835-837)gaG>gaC	p.E279D	CARS_ENST00000397111.5_Missense_Mutation_p.E289D|CARS_ENST00000401769.3_Missense_Mutation_p.E302D|CARS_ENST00000380525.4_Missense_Mutation_p.E372D|CARS_ENST00000278224.9_Missense_Mutation_p.E289D			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	289					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTCCAACGGCCTCAGGCACCA	0.537000			T	ALK	ALCL								35	42					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63936720	63936720	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:63936720C>G	ENST00000260118.6	-	6	927	c.525G>C	c.(523-525)caG>caC	p.Q175H	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	175	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TAGGAAAATTCTGGAACATTC	0.373000													9	30					0	0	1	0	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168227181	168227181	+	RNA	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:168227181C>G	ENST00000359760.5	-	0	208					NR_027906.1																						CACCGCCCATCGGACCCATCA	0.687000													34	39					0	0	1	0	0
AGTRAP	57085	broad.mit.edu	37	1	11808649	11808649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:11808649G>T	ENST00000314340.5	+	4	400	c.346G>T	c.(346-348)Gag>Tag	p.E116*	AGTRAP_ENST00000510878.1_Silent_p.V80V|AGTRAP_ENST00000400895.2_Nonstop_Mutation_p.*148L|AGTRAP_ENST00000376629.4_Intron|AGTRAP_ENST00000452018.2_Intron|AGTRAP_ENST00000376637.3_Intron|AGTRAP_ENST00000491346.1_Intron|AGTRAP_ENST00000376627.2_Nonstop_Mutation_p.*160L	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	116	Interaction with AGTR1.					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCGGGGGTGAGCTCCTGGT	0.662000													13	29					6.81908e-15	7.18587e-15	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141458143	141458143	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:141458143G>A	ENST00000389484.3	-	41	7446	c.6475C>T	c.(6475-6477)Ctt>Ttt	p.L2159F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2159	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCGATAAAGACAGAGTTGC	0.413000										TSP Lung(27;0.18)			34	110					0	0	1	0	0
CMTM7	112616	broad.mit.edu	37	3	32491040	32491040	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:32491040G>C	ENST00000334983.5	+	3	664	c.428G>C	c.(427-429)gGa>gCa	p.G143A	CMTM7_ENST00000349718.4_Intron	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	143	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTGGTAGCCGGAGCGGTGAGG	0.502000													18	62					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124560236	124560236	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:124560236G>C	ENST00000296181.4	-	5	1070	c.774C>G	c.(772-774)gtC>gtG	p.V258V		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	258	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTACCTTGCAGACGGCTGCCT	0.562000													9	14					0	0	1	0	0
ATXN3	4287	broad.mit.edu	37	14	92548672	92548672	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:92548672G>C	ENST00000545170.1	-	8	815	c.747C>G	c.(745-747)ctC>ctG	p.L249L	ATXN3_ENST00000532032.1_Silent_p.L249L|ATXN3_ENST00000503767.1_Silent_p.L234L|ATXN3_ENST00000429774.2_Silent_p.L234L|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Silent_p.L249L|ATXN3_ENST00000340660.6_Silent_p.L194L|ATXN3_ENST00000502250.1_Silent_p.L70L	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	249					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TAGCCCTGCGGAGATCTGCTT	0.418000													34	65					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156507105	156507105	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:156507105G>T	ENST00000361170.2	-	27	3300	c.3290C>A	c.(3289-3291)cCa>cAa	p.P1097Q	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1097	Ras-GAP.		P -> S (in dbSNP:rs12562301).		small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACATCATATGGGAGATGGCT	0.557000													12	17					2.27111e-07	2.30317e-07	1	1	0
DOPEY1	23033	broad.mit.edu	37	6	83848121	83848121	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:83848121G>C	ENST00000349129.2	+	21	4620	c.4360G>C	c.(4360-4362)Gaa>Caa	p.E1454Q	DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1435Q|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1445Q|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1454					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TATGTACATAGAAATTCTTAT	0.373000													45	64					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72119237	72119237	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:72119237G>A	ENST00000356056.5	-	42	7803	c.7331C>T	c.(7330-7332)tCt>tTt	p.S2444F	MYO9A_ENST00000424560.1_Missense_Mutation_p.S2515F|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S2425F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2444	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGTCCCATGAGATGATGCCGT	0.468000													21	42					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222805547	222805547	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:222805547G>T	ENST00000344922.5	+	5	3235	c.3210G>T	c.(3208-3210)aaG>aaT	p.K1070N	MIA3_ENST00000344441.6_Missense_Mutation_p.K1070N|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1070					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CACGAGAGAAGACAGCAGAAC	0.468000													28	54					6.12954e-19	6.52304e-19	1	1	0
ZFP64	55734	broad.mit.edu	37	20	50808154	50808154	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:50808154C>G	ENST00000216923.4	-	1	371	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	ZFP64_ENST00000371518.2_Missense_Mutation_p.E8Q|ZFP64_ENST00000346617.4_Missense_Mutation_p.E8Q|ZFP64_ENST00000371515.4_Missense_Mutation_p.E8Q|ZFP64_ENST00000361387.2_Missense_Mutation_p.E8Q	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAAGCTCTCGCCCTCGCTG	0.687000													4	9					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991988	21991988	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21991988G>A	ENST00000327430.3	-	2	2168	c.1874C>T	c.(1873-1875)tCa>tTa	p.S625L	SALL2_ENST00000450879.2_Missense_Mutation_p.S488L|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	625							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGAAGAGGCTGAGGATGAAGG	0.592000													23	25					0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30639939	30639939	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:30639939C>G	ENST00000249075.3	-	3	465	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	LIF_ENST00000403987.3_Missense_Mutation_p.G44A	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	104					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			CGGTACAGCTCCACCAGCTTG	0.627000													8	22					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35443605	35443605	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:35443605G>A	ENST00000237536.4	-	5	2581	c.2240C>T	c.(2239-2241)tCa>tTa	p.S747L	SOGA1_ENST00000357779.3_Missense_Mutation_p.S509L|SOGA1_ENST00000456801.2_Missense_Mutation_p.S350L|SOGA1_ENST00000279034.6_Missense_Mutation_p.S509L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	509										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGGCAGTGATGAGAAGGACTC	0.582000													41	114					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40565797	40565797	+	Missense_Mutation	SNP	G	G	A	rs141761526		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:40565797G>A	ENST00000455577.2	+	9	2575	c.1663G>A	c.(1663-1665)Gtc>Atc	p.V555I	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.V555I|PAK6_ENST00000542403.2_Missense_Mutation_p.V555I|PAK6_ENST00000560346.1_Missense_Mutation_p.V555I|PAK6_ENST00000453867.1_Missense_Mutation_p.V555I|PAK6_ENST00000260404.4_Missense_Mutation_p.V555I	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	555	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCAAAGACGTCCCTAAGAG	0.562000													19	18					0	0	1	0	0
PIM3	415116	broad.mit.edu	37	22	50355455	50355455	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:50355455C>T	ENST00000360612.4	+	4	1047	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	204	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						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;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		ACACCGACTTCGACGGTGAGC	0.647000													8	13					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230840	36230840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:36230840G>T	ENST00000303965.4	-	2	758	c.269C>A	c.(268-270)tCa>tAa	p.S90*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	90					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTAATCCTTTGAAGGGTCATC	0.368000													36	59					6.03168e-27	6.51543e-27	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23398219	23398219	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chrX:23398219C>G	ENST00000379361.4	+	2	1723	c.863C>G	c.(862-864)tCt>tGt	p.S288C		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	288	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGTGTTGCTCTATGCAGGAC	0.552000													46	7					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63682203	63682203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:63682203C>T	ENST00000301459.4	-	5	791	c.404G>A	c.(403-405)tGg>tAg	p.W135*		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	135	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CTCTACTGTCCACTCGTCAGG	0.592000													93	134					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125281668	125281668	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:125281668G>A	ENST00000298282.9	+	10	1114	c.843G>A	c.(841-843)ctG>ctA	p.L281L	PKNOX2_ENST00000542175.1_Silent_p.L217L|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	281						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCTCCCTCCTGGACAATGAGG	0.532000													43	39					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102651	61102651	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr13:61102651G>C	ENST00000196169.3	+	11	1801	c.1013G>C	c.(1012-1014)aGa>aCa	p.R338T	TDRD3_ENST00000377894.2_Missense_Mutation_p.R338T|TDRD3_ENST00000535286.1_Missense_Mutation_p.R431T|TDRD3_ENST00000377881.2_Missense_Mutation_p.R338T	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	338					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CGTTTTCAAAGAGACTCCCAA	0.388000													37	58					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21990939	21990939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21990939G>A	ENST00000327430.3	-	2	3217	c.2923C>T	c.(2923-2925)Cag>Tag	p.Q975*	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	975							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GCAATATTCTGAGGGCCATGG	0.567000													6	33					0	0	1	0	0
AKT3	10000	broad.mit.edu	37	1	243675656	243675656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:243675656G>A	ENST00000366539.1	-	13	1524	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*	AKT3_ENST00000263826.5_Nonsense_Mutation_p.Q442*|AKT3_ENST00000336199.5_Nonsense_Mutation_p.Q442*|AKT3_ENST00000366540.1_Nonsense_Mutation_p.Q442*			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	442	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GTAATAGTCTGAGCTGTAAAT	0.279000													25	37					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289301	62289301	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:62289301G>A	ENST00000378024.4	-	5	12862	c.12588C>T	c.(12586-12588)ttC>ttT	p.F4196F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4196					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)				CAGGCATGCTGAACTTGGGCA	0.522000													188	218					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2664578	2664578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:2664578G>T	ENST00000324666.5	+	9	1237	c.886G>T	c.(886-888)Gaa>Taa	p.E296*	FAM193A_ENST00000502458.1_Nonsense_Mutation_p.E318*|FAM193A_ENST00000545951.1_Nonsense_Mutation_p.E296*|FAM193A_ENST00000505311.1_Nonsense_Mutation_p.E296*|FAM193A_ENST00000382839.3_Nonsense_Mutation_p.E296*	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	296										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAGTGATGATGAAGATGTTGC	0.418000													265	77					1.08833e-122	1.19054e-122	1	1	0
WDR3	10885	broad.mit.edu	37	1	118502025	118502025	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:118502025G>C	ENST00000349139.5	+	27	2834	c.2787G>C	c.(2785-2787)aaG>aaC	p.K929N	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAGagaagaagaggaagagga	0.373000													24	34					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62749141	62749141	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:62749141C>T	ENST00000280377.5	+	8	858	c.800C>T	c.(799-801)tCa>tTa	p.S267L	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.S242L|USP15_ENST00000353364.3_Missense_Mutation_p.S238L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	267					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGTCTTCCATCATATACCGCT	0.338000													19	17					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160697407	160697407	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:160697407G>C	ENST00000263636.4	-	25	3367	c.3340C>G	c.(3340-3342)Ctg>Gtg	p.L1114V	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L1114V|LY75_ENST00000554112.1_Missense_Mutation_p.L1114V|LY75_ENST00000553424.1_Missense_Mutation_p.L1114V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L1114V	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTTTGTACAGATTATTTAGA	0.408000													17	115					0	0	1	0	0
ZSCAN9	7746	broad.mit.edu	37	6	28195076	28195076	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:28195076C>G	ENST00000527436.1	+	2	315	c.214C>G	c.(214-216)Cga>Gga	p.R72G	ZSCAN9_ENST00000425468.2_Missense_Mutation_p.R72G|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.R72G|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.R72G|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.R72G					zinc finger and SCAN domain containing 9																		GGCTCTTACTCGACTCCAGGA	0.522000													23	38					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661732	2661732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:2661732C>T	ENST00000324666.5	+	8	1174	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	FAM193A_ENST00000502458.1_Nonsense_Mutation_p.Q299*|FAM193A_ENST00000545951.1_Nonsense_Mutation_p.Q275*|FAM193A_ENST00000505311.1_Nonsense_Mutation_p.Q275*|FAM193A_ENST00000382839.3_Nonsense_Mutation_p.Q275*	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	275										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CATCACAATTCAGCAGCACCC	0.522000													18	89					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696221	111696221	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:111696221G>A	ENST00000435970.1	-	15	3919	c.3103C>T	c.(3103-3105)Ctt>Ttt	p.L1035F	REV3L_ENST00000358835.3_Missense_Mutation_p.L1113F|REV3L_ENST00000368805.1_Missense_Mutation_p.L1113F|REV3L_ENST00000368802.3_Missense_Mutation_p.L1113F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1113					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTCTCAGAAAGAAAACCTAGT	0.433000								DNA polymerases (catalytic subunits)					38	69					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185424	8185424	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:8185424G>C	ENST00000520004.1	-	5	3132	c.2868C>G	c.(2866-2868)ctC>ctG	p.L956L	SGK223_ENST00000330777.4_Silent_p.L956L			Q86YV5	SG223_HUMAN		956							ATP binding|non-membrane spanning protein tyrosine kinase activity										ACTGGGTGTAGAGTCCCCCCA	0.582000													24	22					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21990920	21990920	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21990920G>A	ENST00000327430.3	-	2	3236	c.2942C>T	c.(2941-2943)tCt>tTt	p.S981F	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	981							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGGGACTAGAGAAAGAGCAGC	0.562000													5	40					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186646840	186646840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:186646840G>A	ENST00000367468.5	-	5	716	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	194					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TTGAAAAACTGATGCGTGAAG	0.423000													37	43					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48215776	48215776	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:48215776C>T	ENST00000302506.3	-	9	1336	c.928G>A	c.(928-930)Gag>Aag	p.E310K	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.E270K	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	310					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AAACTAACCTCATGGGCCTTC	0.418000													26	13					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25429483	25429483	+	RNA	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:25429483G>A	ENST00000424208.1	+	0	450				SNORD115-8_ENST00000363856.1_RNA	NR_003305.1																						ACATTGTTCTGAAGAGAGATG	0.517000													77	166					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70476335	70476335	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:70476335G>T	ENST00000260128.4	+	5	842	c.125G>T	c.(124-126)cGa>cTa	p.R42L	SULF1_ENST00000458141.2_Missense_Mutation_p.R42L|SULF1_ENST00000419716.3_Missense_Mutation_p.R42L|SULF1_ENST00000402687.4_Missense_Mutation_p.R42L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	42					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAAAACATCCGACCCAACATT	0.483000													34	59					3.62531e-18	3.84854e-18	1	1	0
HIATL1	84641	broad.mit.edu	37	9	97200693	97200693	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr9:97200693C>A	ENST00000375344.3	+	4	547	c.278C>A	c.(277-279)tCt>tAt	p.S93Y	HIATL1_ENST00000428393.2_Missense_Mutation_p.S28Y	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	93					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GGCCTGCTCTCTTTTTTGAGT	0.448000													45	13					3.50607e-19	3.74038e-19	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17081754	17081754	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:17081754G>A	ENST00000443236.1	-	18	2332	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	720						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGGGGCTGGAAAGCGGGGA	0.597000													17	18					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73921215	73921215	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:73921215G>A	ENST00000276602.6	+	1	117	c.94G>A	c.(94-96)Gag>Aag	p.E32K	TERF1_ENST00000276603.5_Missense_Mutation_p.E32K	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	32	Asp/Glu-rich (acidic).				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGCAGAAACAGAGAGAAACGA	0.637000													3	4					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154291355	154291355	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:154291355G>A	ENST00000285873.7	-	15	2174	c.2099C>T	c.(2098-2100)tCa>tTa	p.S700L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	700					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCTGCCCCTGAATAGATGCA	0.512000													15	25					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43985950	43985950	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr21:43985950C>T	ENST00000352133.2	+	15	2217	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	SLC37A1_ENST00000398341.3_Missense_Mutation_p.S412F			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	412					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TACATCTTCTCCACCGTCAGC	0.512000													10	13					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104390	168104390	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:168104390C>T	ENST00000409195.1	+	9	6577	c.6488C>T	c.(6487-6489)cCc>cTc	p.P2163L	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2163L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1941L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1988	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCCCAGTCCCACCCAGCAT	0.383000													26	48					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141516	8141516	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:8141516G>A	ENST00000315684.8	-	4	487	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	160					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TCCAACGGGGGAACAGAAAAA	0.527000													21	24					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155014254	155014254	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:155014254G>A	ENST00000295542.1	+	8	909	c.813G>A	c.(811-813)atG>atA	p.M271I	DCST1_ENST00000368419.2_Missense_Mutation_p.M271I|DCST1_ENST00000423025.2_Missense_Mutation_p.M246I|DCST1_ENST00000392480.1_Missense_Mutation_p.M271I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	271						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AACAGTGCATGAAGCACATCT	0.547000													16	59					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13213007	13213007	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:13213007C>G	ENST00000378694.1	+	2	168	c.93C>G	c.(91-93)ttC>ttG	p.F31L	MCM10_ENST00000484800.2_Missense_Mutation_p.F31L|MCM10_ENST00000378714.3_Missense_Mutation_p.F31L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	31					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAAATAACTTCTTGACGCGGG	0.478000													5	144					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41554476	41554476	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:41554476G>C	ENST00000263253.7	+	19	4781	c.3562G>C	c.(3562-3564)Gat>Cat	p.D1188H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1188					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATACCTCGTGATGCCACTTA	0.493000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				20	28					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735623	140735623	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:140735623G>C	ENST00000571252.1	+	1	856	c.856G>C	c.(856-858)Gac>Cac	p.D286H	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGTAAGAGACAAAATATC	0.433000													15	15					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													3	21					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75880499	75880499	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr13:75880499C>T	ENST00000377636.3	-	15	3048	c.2702G>A	c.(2701-2703)aGa>aAa	p.R901K	TBC1D4_ENST00000425511.1_Intron|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R838K|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R893K	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	901						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GATTTTAGCTCTGCAGTTTAA	0.338000													17	36					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463636	5463636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:5463636C>T	ENST00000296564.7	+	13	4411	c.4189C>T	c.(4189-4191)Cag>Tag	p.Q1397*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1397										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATTTCAGTGTCAGATAGCAAC	0.448000													36	11					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2495528	2495528	+	Silent	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:2495528G>T	ENST00000397066.4	+	10	1087	c.999G>T	c.(997-999)ctG>ctT	p.L333L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	333	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCCTGCACCTGACCGTGGAGT	0.612000													21	42					6.33239e-15	6.68936e-15	1	1	0
SLC32A1	140679	broad.mit.edu	37	20	37356484	37356484	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:37356484C>G	ENST00000217420.1	+	2	1043	c.780C>G	c.(778-780)ctC>ctG	p.L260L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	260					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTAAGAACCTCAAGGCCGTGT	0.592000													16	35					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76794517	76794517	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:76794517G>A	ENST00000542802.3	-	20	3800	c.3357C>T	c.(3355-3357)ctC>ctT	p.L1119L	USP36_ENST00000312010.6_Silent_p.L1119L|USP36_ENST00000449938.2_Silent_p.L724L			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGCGATAGCTGAGGCTGGCAG	0.562000													34	40					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3419752	3419752	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:3419752G>A	ENST00000301365.4	-	16	2328	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	TRPV3_ENST00000576742.1_Splice_Site_p.R733W|TRPV3_ENST00000572519.1_Splice_Site_p.R733W			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	733						integral to membrane	calcium channel activity	p.R733W(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CTTTGTTACCGCAAACACAGT	0.537000													23	34					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473607	53473607	+	RNA	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:53473607C>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTGCCACTCTCATTACATTGG	0.323000													14	26					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964261	3964261	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:3964261G>A	ENST00000545797.2	-	4	777	c.534C>T	c.(532-534)ttC>ttT	p.F178F	DAPK3_ENST00000301264.3_Silent_p.F178F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	178	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGTGCCGAAGATGTTCT	0.642000													11	13					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112084477	112084477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:112084477C>T	ENST00000357685.5	+	9	1360	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	BCO2_ENST00000526088.1_Nonsense_Mutation_p.R375*|BCO2_ENST00000532593.1_Nonsense_Mutation_p.R304*|BCO2_ENST00000361053.4_Nonsense_Mutation_p.R336*|BCO2_ENST00000438022.1_Nonsense_Mutation_p.R375*|BCO2_ENST00000393032.2_Nonsense_Mutation_p.R375*|BCO2_ENST00000531169.1_Nonsense_Mutation_p.R375*			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	409					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATCTTTCCCTCGAAGGTTTGT	0.413000													62	99					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51415412	51415412	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:51415412C>G	ENST00000522124.1	+	9	1099	c.438C>G	c.(436-438)ctC>ctG	p.L146L	SNTG1_ENST00000276467.5_Silent_p.L146L|SNTG1_ENST00000517473.1_Silent_p.L146L|SNTG1_ENST00000518864.1_Silent_p.L146L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	146					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTGCTTTCCTCAAACTCCCAT	0.308000													18	44					0	0	1	0	0
TRIM16	10626	broad.mit.edu	37	17	15532388	15532388	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:15532388G>A	ENST00000579219.1	-	3	572	c.326C>T	c.(325-327)tCc>tTc	p.S109F	RP11-385D13.1_ENST00000455584.2_Silent_p.F412F|TRIM16_ENST00000577886.1_Silent_p.F196F|TRIM16_ENST00000416464.2_Silent_p.F282F|TRIM16_ENST00000578237.1_Silent_p.F412F|TRIM16_ENST00000336708.7_Silent_p.F412F					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GCCAGTGCAGGAACCTGCTGG	0.607000													14	15					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													9	11					0	0	1	0	0
RAD51D	5892	broad.mit.edu	37	17	33446594	33446594	+	Silent	SNP	G	G	C	rs146448657		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:33446594G>C	ENST00000345365.6	-	1	294	c.39C>G	c.(37-39)acC>acG	p.T13T	RAD51D_ENST00000360276.3_Silent_p.T13T|RAD51D_ENST00000335858.7_Silent_p.T13T|RAD51D_ENST00000460118.2_5'UTR|RAD51D_ENST00000357906.3_Silent_p.T13T|RAD51D_ENST00000590380.1_5'UTR|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000590016.1_Silent_p.T13T|RAD51D_ENST00000394589.4_Silent_p.T13T	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	13					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCATCTCCTCGGTAAGGCCAG	0.687000								Direct reversal of damage					12	39					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:90162338T>C	ENST00000567960.1	+	0	1074				TUBB8P7_ENST00000564451.1_RNA																							GACATCCCACTCCGGGGGCTA	0.483000													4	164					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99459920	99459920	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:99459920G>A	ENST00000268035.6	+	10	2627	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	IGF1R_ENST00000558762.1_Silent_p.K672K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	672	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCATCAGGAAGTATGCCGACG	0.493000													16	27					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5463332	5463332	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:5463332C>G	ENST00000345221.3	-	4	1238	c.684G>C	c.(682-684)gaG>gaC	p.E228D	NLRP1_ENST00000354411.3_Missense_Mutation_p.E228D|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.E228D|NLRP1_ENST00000269280.4_Missense_Mutation_p.E228D|NLRP1_ENST00000572272.1_Missense_Mutation_p.E228D|NLRP1_ENST00000262467.5_Missense_Mutation_p.E228D	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	228					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCTGCCTTTCTCTGATTTCT	0.488000													17	19					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691876	153691876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:153691876C>T	ENST00000304337.2	-	2	1101	c.281G>A	c.(280-282)tGg>tAg	p.W94*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	94	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AATTCGATACCATCTCATTAA	0.373000													41	80					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9780858	9780858	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:9780858G>C	ENST00000383829.2	+	3	1179	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	BRPF1_ENST00000424362.1_Missense_Mutation_p.E259Q|BRPF1_ENST00000302054.3_Missense_Mutation_p.E259Q|BRPF1_ENST00000457855.1_Missense_Mutation_p.E259Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.E259Q	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	259					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTCGTACTTTGAGAGTCATAA	0.488000													12	25					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36990108	36990108	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:36990108C>G	ENST00000274963.8	+	13	1591	c.1420C>G	c.(1420-1422)Ctg>Gtg	p.L474V		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	474					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTTCAACGCTCTGACGCGCCG	0.672000											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	18					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729271	37729271	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:37729271C>T	ENST00000330843.4	-	4	3061	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1017					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTATCTGCCTCGCCACTGGGC	0.572000													18	36					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851644	26851644	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:26851644C>T	ENST00000226247.2	+	2	276	c.247C>T	c.(247-249)Cca>Tca	p.P83S	FOXN1_ENST00000579795.1_Missense_Mutation_p.P83S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	83					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGGCCACTGCCCAGCCGGCCC	0.667000													22	19					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13275552	13275552	+	Missense_Mutation	SNP	C	C	G	rs150509047		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:13275552C>G	ENST00000378681.3	-	3	278	c.206G>C	c.(205-207)aGa>aCa	p.R69T	UCMA_ENST00000463405.2_Missense_Mutation_p.R47T	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	69						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GACCTCATCTCTGGACTTGGG	0.592000													28	53					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47646742	47646742	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:47646742G>T	ENST00000398742.2	+	3	188	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	GPR111_ENST00000296862.1_Missense_Mutation_p.D115Y|GPR111_ENST00000507065.1_Missense_Mutation_p.D47Y			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	115					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						TGTCTGTACAGACTACTCCCA	0.517000													32	52					2.35968e-33	2.57474e-33	1	1	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													4	67					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185775224	185775224	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:185775224C>G	ENST00000306376.5	-	10	1273	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	ETV5_ENST00000537818.1_Missense_Mutation_p.E385Q|ETV5_ENST00000434744.1_Missense_Mutation_p.E343Q|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	343					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TCCAGTCTCTCAGGCACAACA	0.433000			T	"""TMPRSS2, SCL45A3"""	Prostate								140	208					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23395473	23395473	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:23395473G>A	ENST00000324366.8	-	7	869	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	PRMT5_ENST00000216350.8_Missense_Mutation_p.H155Y|PRMT5_ENST00000397441.2_Missense_Mutation_p.H199Y|PRMT5_ENST00000538452.1_Missense_Mutation_p.H110Y|PRMT5_ENST00000553897.1_Missense_Mutation_p.H172Y|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	216					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TCAATGACATGATTAGATGGG	0.473000													28	37					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25429519	25429519	+	RNA	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:25429519G>C	ENST00000424208.1	+	0	450				SNORD115-8_ENST00000363856.1_RNA	NR_003305.1																						TGCTCAATAGGATTACGCTGA	0.512000													82	159					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74785901	74785901	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:74785901G>T	ENST00000290536.5	-	11	1651	c.1535C>A	c.(1534-1536)tCt>tAt	p.S512Y	M1AP_ENST00000358434.2_Missense_Mutation_p.S161Y|M1AP_ENST00000536235.1_Missense_Mutation_p.S508Y|M1AP_ENST00000409585.1_Missense_Mutation_p.S508Y|M1AP_ENST00000464686.1_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein																		ATCTGAGGAAGATTTGCTGGC	0.587000													29	30					7.38237e-10	7.5938e-10	1	1	0
MZB1	51237	broad.mit.edu	37	5	138723536	138723536	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:138723536C>T	ENST00000302125.8	-	4	545	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	MZB1_ENST00000412103.2_Missense_Mutation_p.R71Q	NM_016459.3	NP_057543.2	Q8WU39	PERP1_HUMAN	marginal zone B and B1 cell-specific protein	163					apoptosis|positive regulation of immunoglobulin biosynthetic process	cytoplasm|endoplasmic reticulum chaperone complex	protein binding										CAGAGCCCCTCGGCCTTGTTG	0.592000													21	37					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784509	15784509	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:15784509G>A	ENST00000550308.1	+	2	550	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R57Q	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCCCAAAACGGAACTGGTTT	0.587000													32	70					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267054	1267054	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:1267054G>A	ENST00000339381.5	+	2	260	c.228G>A	c.(226-228)atG>atA	p.M76I		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	76					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CACTGGCCATGAAAATGGCCG	0.632000													28	4					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156846341	156846341	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:156846341C>T	ENST00000368196.3	+	13	1884	c.1764C>T	c.(1762-1764)caC>caT	p.H588H	NTRK1_ENST00000358660.3_Silent_p.H591H|NTRK1_ENST00000524377.1_Silent_p.H594H|NTRK1_ENST00000392302.2_Silent_p.H558H	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	594	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ATATGCGGCACGGGGACCTCA	0.657000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			8	11					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24648092	24648092	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:24648092G>A	ENST00000311457.3	+	15	1769	c.1170G>A	c.(1168-1170)agG>agA	p.R390R	REC8_ENST00000559919.1_Silent_p.R390R			O95072	REC8_HUMAN	REC8 meiotic recombination protein	391	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGGAGGAAAGGAGAAAGATTG	0.592000													54	115					0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36422804	36422804	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:36422804C>T	ENST00000378867.3	+	3	488	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	PRR5L_ENST00000527487.1_Silent_p.L45L|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000311599.5_Silent_p.L19L|PRR5L_ENST00000530639.1_Silent_p.L45L	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	45										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TCGGCAGGCTCTGCAGCTGAG	0.657000													26	22					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120353728	120353728	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:120353728G>A	ENST00000239032.2	-	2	1167	c.1029C>T	c.(1027-1029)cgC>cgT	p.R343R	PRLHR_ENST00000369169.1_Silent_p.R343R	NM_004248.2	NP_004239	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	343					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCAGCTCCTCGCGGAAGCTGT	0.612000													14	24					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50385807	50385807	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:50385807G>A	ENST00000434422.1	-	16	1989	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	RACGAP1_ENST00000427314.2_Missense_Mutation_p.S563L|RACGAP1_ENST00000548961.1_Missense_Mutation_p.S73L|RACGAP1_ENST00000547905.1_Missense_Mutation_p.S563L|RACGAP1_ENST00000312377.5_Missense_Mutation_p.S563L|RACGAP1_ENST00000551016.1_Missense_Mutation_p.S563L|RACGAP1_ENST00000454520.2_Missense_Mutation_p.S563L			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	563					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTGTGGTGTTGAAAAGGCATT	0.448000													29	58					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1719033	1719033	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:1719033G>A	ENST00000397412.3	+	19	3465	c.3366G>A	c.(3364-3366)ctG>ctA	p.L1122L	CRAMP1L_ENST00000436138.3_Silent_p.L1119L|CRAMP1L_ENST00000262317.4_Silent_p.L497L|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.L1122L			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1122	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAGCAAAACTGAATGGCAGTG	0.592000													5	10					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983569	2983569	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:2983569C>T	ENST00000342628.2	-	2	189	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	FOXM1_ENST00000361953.3_Missense_Mutation_p.E26K|FOXM1_ENST00000359843.3_Missense_Mutation_p.E26K	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	26					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TCTGATGTTTCACTTGGGGCA	0.507000													70	82					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318788	3318788	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:3318788G>A	ENST00000336727.3	+	2	1795	c.891G>A	c.(889-891)gaG>gaA	p.E297E	RGS12_ENST00000382788.3_Silent_p.E297E|RGS12_ENST00000344733.5_Silent_p.E297E|RGS12_ENST00000543385.1_Silent_p.E297E	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	297	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCCGGCCGAGAAGCTGGCCT	0.612000													13	126					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3822171	3822171	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:3822171G>A	ENST00000262961.4	-	9	1409	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	467						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CAGTGGAAGCGAAGCACTCGC	0.647000													4	5					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39255569	39255569	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:39255569C>G	ENST00000399820.3	+	26	3074	c.2920C>G	c.(2920-2922)Ctt>Gtt	p.L974V	WDR19_ENST00000288634.7_Missense_Mutation_p.L814V	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	974					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CATCCAGTTTCTTGTCATGTC	0.338000													41	57					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720872	140720872	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:140720872G>A	ENST00000394576.2	+	1	2334	c.2334G>A	c.(2332-2334)acG>acA	p.T778T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.512000													67	102					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190013	49190013	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:49190013C>T	ENST00000406846.2	-	10	2066	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	FSHR_ENST00000346173.3_Missense_Mutation_p.M587I|FSHR_ENST00000541117.1_Missense_Mutation_p.M385I|FSHR_ENST00000304421.4_Missense_Mutation_p.M623I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	649					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTTGGGCTTGCATTTCATAGC	0.478000									Gonadal Dysgenesis, 46 XX				31	32					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081739	17081739	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:17081739C>T	ENST00000443236.1	-	18	2347	c.2316G>A	c.(2314-2316)ggG>ggA	p.G772G	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	725						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCACCAGGCTCCCTGTGTGGG	0.602000													16	16					0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75040285	75040285	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:75040285G>A	ENST00000395759.2	+	2	233	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.R11Q|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.R11Q|MTHFD2L_ENST00000433372.1_5'UTR	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	11					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			GAAATACAGCGAGGTGTGGAA	0.383000													17	30					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145969708	145969708	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:145969708C>T	ENST00000394413.3	-	9	1704	c.1134G>A	c.(1132-1134)tcG>tcA	p.S378S	CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394409.3_Silent_p.S436S|PPP2R2B_ENST00000504198.1_Silent_p.S384S|PPP2R2B_ENST00000394414.1_Silent_p.S444S|PPP2R2B_ENST00000453001.1_Silent_p.S378S|PPP2R2B_ENST00000508545.2_Silent_p.S367S|PPP2R2B_ENST00000336640.6_Silent_p.S381S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Silent_p.S378S|PPP2R2B_ENST00000394411.4_Silent_p.S378S|PPP2R2B_ENST00000394410.2_Silent_p.S367S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	378					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTTCCCTCGAAGCCTCAA	0.517000													44	61					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318389	3318389	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:3318389G>A	ENST00000336727.3	+	2	1396	c.492G>A	c.(490-492)ttG>ttA	p.L164L	RGS12_ENST00000382788.3_Silent_p.L164L|RGS12_ENST00000344733.5_Silent_p.L164L|RGS12_ENST00000543385.1_Silent_p.L164L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	164						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGAGCCCTTGAAATTGAAAC	0.423000													17	199					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21990918	21990918	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21990918G>A	ENST00000327430.3	-	2	3238	c.2944C>T	c.(2944-2946)Cta>Tta	p.L982L	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	982							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAGGGACTAGAGAAAGAGCA	0.562000													5	40					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41985780	41985780	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:41985780C>T	ENST00000216259.7	-	1	114	c.30G>A	c.(28-30)agG>agA	p.R10R	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	10					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CGCGCTCCTTCCTGCGGGCTG	0.667000													3	7					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91359179	91359179	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:91359179G>A	ENST00000307534.4	-	3	1295	c.1140C>T	c.(1138-1140)aaC>aaT	p.N380N	PANK1_ENST00000371774.2_Silent_p.N182N|PANK1_ENST00000342512.3_Silent_p.N155N|PANK1_ENST00000322191.6_Silent_p.N155N	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	380					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CTGGCTTGCCGTTGAAGCCAA	0.428000													4	121					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120210636	120210636	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:120210636C>G	ENST00000392521.2	-	17	2075	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E674Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	674					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCAGCTTCTCCAGCTCCCTC	0.592000													82	117					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24532638	24532638	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:24532638G>C	ENST00000342740.5	+	31	3029	c.2875G>C	c.(2875-2877)Gaa>Caa	p.E959Q	LRRC16B_ENST00000334420.7_Missense_Mutation_p.E55Q	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	959										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGGCTCCTGGGAAGGTCTATC	0.617000													24	20					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108788542	108788542	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:108788542C>T	ENST00000232603.5	-	9	834	c.752G>A	c.(751-753)aGa>aAa	p.R251K	MORC1_ENST00000483760.1_Missense_Mutation_p.R251K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	251					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATGAATATTCTCATCCATGG	0.378000													28	32					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288749	62288749	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:62288749G>A	ENST00000378024.4	-	5	13414	c.13140C>T	c.(13138-13140)atC>atT	p.I4380I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4380					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)				TGGGGGCCTTGATGTTCATCT	0.478000													77	128					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	rs144660402		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667000													6	14					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171527147	171527147	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:171527147C>G	ENST00000367742.3	+	19	6138	c.5896C>G	c.(5896-5898)Caa>Gaa	p.Q1966E	PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q1964E|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q1966E|PRRC2C_ENST00000338920.4_Missense_Mutation_p.Q1964E			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1964							protein C-terminus binding										GCCTTCAGCTCAAACACCTAA	0.483000													18	18					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1494734	1494734	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:1494734C>A	ENST00000301335.5	-	8	848	c.760G>T	c.(760-762)Gac>Tac	p.D254Y	SLC43A2_ENST00000412517.3_Missense_Mutation_p.D117Y|SLC43A2_ENST00000382147.4_Missense_Mutation_p.D254Y|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000571650.1_Missense_Mutation_p.D254Y	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2					D -> N (in Ref. 6; BAC11383).	cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		ATCTTGTGGTCAAAGCCCAGC	0.672000													26	26					3.73148e-12	3.8847e-12	1	1	0
FERMT2	10979	broad.mit.edu	37	14	53386043	53386043	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:53386043G>C	ENST00000395631.2	-	3	405	c.189C>G	c.(187-189)ctC>ctG	p.L63L	FERMT2_ENST00000341590.3_Silent_p.L63L|FERMT2_ENST00000553373.1_Silent_p.L63L|FERMT2_ENST00000399304.3_Silent_p.L63L|FERMT2_ENST00000343279.4_Silent_p.L63L			Q96AC1	FERM2_HUMAN	fermitin family member 2	63					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTTCCCACCAGAGAGCATGGT	0.368000													37	53					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24720350	24720350	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:24720350C>T	ENST00000314328.9	+	6	2386	c.2101C>T	c.(2101-2103)Cgt>Tgt	p.R701C	SPECC1L_ENST00000541492.1_Missense_Mutation_p.R701C|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.R701C|SPECC1L_ENST00000437398.1_Missense_Mutation_p.R701C	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	701					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAACAACATCGTGCTGTGAA	0.353000													15	28					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166845910	166845910	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:166845910C>T	ENST00000510118.1	-	17	1816	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P	RPS6KA2_ENST00000405189.3_Silent_p.P378P|RPS6KA2_ENST00000265678.4_Silent_p.P467P|RPS6KA2_ENST00000503859.1_Silent_p.P475P|RPS6KA2_ENST00000481261.2_Silent_p.P378P			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	467	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGATGATGTTCGGGTGCTGGC	0.517000													7	14					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618086	89618086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:89618086C>A	ENST00000294671.2	-	5	628	c.490G>T	c.(490-492)Gag>Tag	p.E164*		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	164						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTGGAGTCCTCAACTTCATCA	0.478000													41	46					5.7616e-29	6.23932e-29	1	1	0
DCST1	149095	broad.mit.edu	37	1	155015923	155015923	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:155015923G>A	ENST00000295542.1	+	10	1206	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	DCST1_ENST00000368419.2_Silent_p.L370L|DCST1_ENST00000423025.2_Silent_p.L345L|DCST1_ENST00000392480.1_Silent_p.L370L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	370						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGGCCCGGCTGGAGTGGGCCC	0.672000													19	36					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32954998	32954998	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:32954998G>C	ENST00000399302.2	+	4	2142	c.1807G>C	c.(1807-1809)Gat>Cat	p.D603H	QSER1_ENST00000527788.1_Missense_Mutation_p.D364H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	603										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GTCAAAGGCAGATGACAGATA	0.398000													51	51					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27149875	27149875	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:27149875G>T	ENST00000396352.4	-	2	584	c.385C>A	c.(385-387)Cag>Aag	p.Q129K	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.Q129K	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	129	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CTGGCATTCTGAGGAGGGGAG	0.677000													17	14					1.56452e-12	1.63667e-12	1	1	0
BRINP2	57795	broad.mit.edu	37	1	177249792	177249792	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:177249792G>C	ENST00000361539.4	+	8	1792	c.1480G>C	c.(1480-1482)Gag>Cag	p.E494Q	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	494																	GTGCCGGCCAGAGGTGGCCGA	0.622000													9	34					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44713683	44713683	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:44713683G>A	ENST00000372257.2	-	8	1040	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	ERI3_ENST00000372259.5_Missense_Mutation_p.P172S|ERI3_ENST00000537474.1_Missense_Mutation_p.P110S	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	287	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCATTCTTGGGCCAGCAGCCC	0.592000													14	19					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83095819	83095819	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:83095819G>A	ENST00000307792.3	-	4	902	c.435C>T	c.(433-435)atC>atT	p.I145I	SEMA3E_ENST00000427262.1_Silent_p.I85I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	145	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATCCAACTCTGATGAAGGCAC	0.388000													25	50					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13717041	13717041	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:13717041G>A	ENST00000357447.2	-	16	1489	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	FRMD4A_ENST00000358621.4_Missense_Mutation_p.S359F|FRMD4A_ENST00000378503.1_Missense_Mutation_p.S374F	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	374						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGATTCCTGAGAACCTGTCGA	0.547000													19	43					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318866	3318866	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:3318866G>C	ENST00000336727.3	+	2	1873	c.969G>C	c.(967-969)ggG>ggC	p.G323G	RGS12_ENST00000382788.3_Silent_p.G323G|RGS12_ENST00000344733.5_Silent_p.G323G|RGS12_ENST00000543385.1_Silent_p.G323G	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	323	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGACGACGGGAGCCTGGCCC	0.617000													20	260					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812408	52812408	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:52812408C>T	ENST00000273283.2	+	3	215	c.191C>T	c.(190-192)tCt>tTt	p.S64F	ITIH1_ENST00000542827.1_Missense_Mutation_p.S64F	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	64	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AAAGTCACCTCTCGCTTCGCC	0.532000													35	54					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310783	171310783	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:171310783G>A	ENST00000367749.3	+	10	1812	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	494					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACAGAACATTGAAACCTTTAA	0.488000													29	42					0	0	1	0	0
STX2	2054	broad.mit.edu	37	12	131297565	131297565	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:131297565C>G	ENST00000261653.6	-	4	383	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	STX2_ENST00000392373.2_Missense_Mutation_p.E73Q	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	73					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TCTTCAAGCTCTTCttttatt	0.254000													43	49					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48638959	48638959	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:48638959G>A	ENST00000352832.5	+	1	511	c.139G>A	c.(139-141)Gag>Aag	p.E47K	CACNA1G_ENST00000514717.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000416767.4_Missense_Mutation_p.E47K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E47K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E47K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E47K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E47K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E47K|CACNA1G-AS1_ENST00000505793.1_RNA|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E47K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E47K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E47K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E47K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E47K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	47					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGCGGACTCCGAGGCGGAGGG	0.721000													4	4					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130846088	130846088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:130846088G>A	ENST00000509018.1	-	8	929	c.724C>T	c.(724-726)Cga>Tga	p.R242*	RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.R242*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.R292*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.R242*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.R242*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.R242*|RAPGEF6_ENST00000510071.1_Nonsense_Mutation_p.R242*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	242					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGATCTGTTCGATCAATCTCT	0.428000													37	36					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254107	155254107	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:155254107C>T	ENST00000357232.4	-	9	1755	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	DCHS2_ENST00000339452.1_Missense_Mutation_p.E1085K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACCAAATGTTCGAAAGTCCAG	0.572000													25	51					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62986438	62986438	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:62986438C>T	ENST00000393630.3	+	36	5457	c.5066C>T	c.(5065-5067)tCa>tTa	p.S1689L	MON2_ENST00000551397.1_Missense_Mutation_p.S62L|MON2_ENST00000393632.2_Missense_Mutation_p.S1688L|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.S1659L|MON2_ENST00000393629.2_Missense_Mutation_p.S1682L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1689					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGTTCTTCTTCAGAAGTCTGT	0.403000													36	48					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000453	16000453	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:16000453G>C	ENST00000221700.6	-	7	793	c.698C>G	c.(697-699)tCa>tGa	p.S233*	CYP4F2_ENST00000011989.7_Nonsense_Mutation_p.S84*	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGTCTTTTTGATACAAGGGC	0.507000													62	55					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75693271	75693271	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:75693271C>G	ENST00000394947.3	-	11	1851	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	SIN3A_ENST00000360439.4_Missense_Mutation_p.E513Q|SIN3A_ENST00000394949.4_Missense_Mutation_p.E513Q	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	513	Interaction with SAP30 (By similarity).|PAH 3.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TTAAACAACTCAGGGAATTTC	0.418000													20	32					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175099	19175099	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:19175099C>G	ENST00000263200.10	-	29	4648	c.4576G>C	c.(4576-4578)Gag>Cag	p.E1526Q	CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1526Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1526	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTGCAGAGCTCCACGCTCTGG	0.567000			T	?	ALCL								24	37					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190396	72190396	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:72190396G>A	ENST00000356056.5	-	25	4920	c.4448C>T	c.(4447-4449)tCt>tTt	p.S1483F	MYO9A_ENST00000424560.1_Missense_Mutation_p.S1483F|MYO9A_ENST00000564571.1_Missense_Mutation_p.S1483F|MYO9A_ENST00000444904.1_Missense_Mutation_p.S1464F|MYO9A_ENST00000566885.1_Missense_Mutation_p.S1103F|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1483	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CACAGGATTAGAAGACTCTGT	0.393000													26	68					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148388496	148388496	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:148388496C>G	ENST00000538184.1	-	11	2925	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L	SH3TC2_ENST00000515425.1_Silent_p.L1132L|SH3TC2_ENST00000512049.1_Silent_p.L1125L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1132							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTCTGTCAGCTTATTGA	0.522000													46	68					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48648040	48648040	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:48648040C>T	ENST00000518074.1	+	19	2768	c.2597C>T	c.(2596-2598)gCa>gTa	p.A866V	SPIDR_ENST00000541342.1_3'UTR|SPIDR_ENST00000297423.4_3'UTR|SPIDR_ENST00000517693.1_3'UTR|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518060.1_3'UTR	NM_001282919.1	NP_001269848.1			scaffolding protein involved in DNA repair																		GTGAACTTTGCAATGTGGCTG	0.498000													13	17					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188325	7188325	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:7188325G>A	ENST00000486284.1	+	2	980	c.706G>A	c.(706-708)Gag>Aag	p.E236K	GRM7_ENST00000357716.4_Missense_Mutation_p.E236K|GRM7_ENST00000403881.1_Missense_Mutation_p.E236K|GRM7_ENST00000402647.2_Missense_Mutation_p.E236K|GRM7_ENST00000389336.4_Missense_Mutation_p.E236K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	236					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAAAGGTGTGGAGTCCTTCAC	0.488000													18	31					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318924	3318924	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:3318924G>A	ENST00000336727.3	+	2	1931	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	RGS12_ENST00000382788.3_Missense_Mutation_p.D343N|RGS12_ENST00000344733.5_Missense_Mutation_p.D343N|RGS12_ENST00000543385.1_Missense_Mutation_p.D343N	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	343						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTTCATGGTGGACCCAGACTT	0.582000													23	262					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67074892	67074892	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:67074892C>G	ENST00000308127.4	+	6	765	c.587C>G	c.(586-588)tCc>tGc	p.S196C	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.S196C|SSH3_ENST00000308298.7_Missense_Mutation_p.S196C	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	196					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGCCCATCTCCATCCAGACC	0.617000													12	11					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570260	25570260	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr18:25570260G>C	ENST00000269141.3	-	10	1822	c.1399C>G	c.(1399-1401)Caa>Gaa	p.Q467E	CDH2_ENST00000399380.3_Missense_Mutation_p.Q436E	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	467	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATGGCACTTGATTTTCTGCA	0.413000													36	50					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318746	3318746	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:3318746G>C	ENST00000336727.3	+	2	1753	c.849G>C	c.(847-849)ctG>ctC	p.L283L	RGS12_ENST00000382788.3_Silent_p.L283L|RGS12_ENST00000344733.5_Silent_p.L283L|RGS12_ENST00000543385.1_Silent_p.L283L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	283	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTGTGCAGCTGAGCACTGACA	0.622000													7	85					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993001	21993001	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21993001G>C	ENST00000327430.3	-	2	1155	c.861C>G	c.(859-861)ttC>ttG	p.F287L	SALL2_ENST00000450879.2_Missense_Mutation_p.F150L|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	287							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCCAGCAGAGAAAGGATGCT	0.602000													11	19					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118968195	118968195	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:118968195G>A	ENST00000409993.2	-	9	2535	c.984C>T	c.(982-984)ttC>ttT	p.F328F	DPAGT1_ENST00000432443.2_Silent_p.F221F|DPAGT1_ENST00000354202.4_Silent_p.F328F			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	328					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGGTGCCCAAGAAAGAGAGGC	0.488000													56	78					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25262738	25262738	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:25262738G>A	ENST00000216962.4	+	12	1583	c.1473G>A	c.(1471-1473)cgG>cgA	p.R491R		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	491					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CCCCCCGCCGGTGGCTGCTGC	0.592000													17	31					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993733	21993733	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21993733G>A	ENST00000327430.3	-	2	423	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SALL2_ENST00000450879.2_Silent_p.F41F|SALL2_ENST00000538754.1_Silent_p.F41F|SALL2_ENST00000317492.5_Silent_p.F43F	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	43							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTGGGTCAGTGAATTGTGCGC	0.562000													23	34					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16763858	16763858	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:16763858G>C	ENST00000513610.1	-	13	1787	c.1333C>G	c.(1333-1335)Cac>Gac	p.H445D		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	445	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTTCAAAGTGATTAACCTAA	0.333000													5	46					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761908	130761908	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:130761908G>A	ENST00000392429.1	+	2	2719	c.341G>A	c.(340-342)cGc>cAc	p.R114H	TMEM200A_ENST00000545622.1_Missense_Mutation_p.R114H|TMEM200A_ENST00000296978.3_Missense_Mutation_p.R114H	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	114						integral to membrane		p.R114H(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTGGTGGTTCGCTTCTTTGAG	0.408000													49	54					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74921111	74921111	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:74921111C>T	ENST00000569840.2	+	9	1663	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	MGAT5B_ENST00000428789.2_Silent_p.L374L|MGAT5B_ENST00000301618.4_Silent_p.L363L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	363						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTTCGACCTCATCTACACCG	0.622000													40	55					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:45353208C>A	ENST00000303230.4	-	5	1428	c.1371G>T	c.(1369-1371)ctG>ctT	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L457L(1)		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						TTACCTCTCTCAGAGGATCAT	0.343000													37	61					9.8876e-21	1.06009e-20	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136700977	136700977	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:136700977C>T	ENST00000445907.2	+	3	1893	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	CHRM2_ENST00000453373.1_Silent_p.L455L|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Silent_p.L455L|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.L455L|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Silent_p.L455L|CHRM2_ENST00000402486.3_Silent_p.L455L|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	455					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AACACCTTCTCATGTGTCATT	0.408000													44	52					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318219	3318219	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:3318219G>A	ENST00000336727.3	+	2	1226	c.322G>A	c.(322-324)Gat>Aat	p.D108N	RGS12_ENST00000382788.3_Missense_Mutation_p.D108N|RGS12_ENST00000344733.5_Missense_Mutation_p.D108N|RGS12_ENST00000543385.1_Missense_Mutation_p.D108N	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	108						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGTTCCAGTGATGAAGAAGG	0.483000													15	177					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50402640	50402640	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:50402640C>A	ENST00000394688.3	-	1	205	c.46G>T	c.(46-48)Gag>Tag	p.E16*	RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000394689.2_Nonsense_Mutation_p.E16*|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	16	Lys-rich.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCCTCACCCTCGTAGAGGTGT	0.756000													15	5					9.16793e-09	9.3857e-09	1	1	0
SGK223	157285	broad.mit.edu	37	8	8185489	8185489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:8185489G>A	ENST00000520004.1	-	5	3067	c.2803C>T	c.(2803-2805)Cag>Tag	p.Q935*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.Q935*			Q86YV5	SG223_HUMAN		935							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCGTGCAGCTGAAGCTGGGTG	0.657000													19	24					0	0	1	0	0
IGLV4-60	28785	broad.mit.edu	37	22	22516791	22516791	+	RNA	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:22516791C>G	ENST00000390284.2	+	0	79																											TGTGCTGACTCAATCATCCTC	0.527000													17	34					0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197614869	197614869	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:197614869G>A	ENST00000235453.4	-	9	699	c.422C>T	c.(421-423)tCc>tTc	p.S141F	DENND1B_ENST00000367396.3_Missense_Mutation_p.S171F|DENND1B_ENST00000400967.2_Missense_Mutation_p.S141F			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	171	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AATGAAGTAGGAATGCTAATC	0.254000													17	23					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74183360	74183360	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:74183360G>A	ENST00000498286.1	+	4	1085	c.808G>A	c.(808-810)Gag>Aag	p.E270K	MTO1_ENST00000370300.4_Missense_Mutation_p.E270K|MTO1_ENST00000370305.1_Missense_Mutation_p.E196K|MTO1_ENST00000415954.2_Missense_Mutation_p.E270K			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	270					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CTTTACCAATGAGACAGTATG	0.383000													30	36					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155013944	155013944	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:155013944G>A	ENST00000295542.1	+	7	699	c.603G>A	c.(601-603)gtG>gtA	p.V201V	DCST1_ENST00000368419.2_Silent_p.V201V|DCST1_ENST00000423025.2_Silent_p.V176V|DCST1_ENST00000392480.1_Silent_p.V201V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	201						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ATGCCCAGGTGAATAGTGAGA	0.597000													16	40					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178948117	178948117	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:178948117G>A	ENST00000263967.3	+	20	3046	c.2889G>A	c.(2887-2889)gtG>gtA	p.V963V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	963	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCTTAATAGTGATTAGTAAAG	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			32	43					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88955938	88955938	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr9:88955938G>A	ENST00000375961.2	-	7	1331	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375948.1_Nonsense_Mutation_p.Q11*|ZCCHC6_ENST00000375963.3_Nonsense_Mutation_p.Q373*			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	373					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAACATTCTTGAACAAGTAAG	0.294000													50	9					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41985781	41985781	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:41985781C>T	ENST00000216259.7	-	1	113	c.29G>A	c.(28-30)aGg>aAg	p.R10K	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	10					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GCGCTCCTTCCTGCGGGCTGC	0.667000													3	7					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976878	107976878	+	Nonsense_Mutation	SNP	A	A	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chrX:107976878A>T	ENST00000372129.2	-	1	2773	c.2697T>A	c.(2695-2697)taT>taA	p.Y899*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	899						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCTTGATTTTATATCCTTTTG	0.428000													99	14					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5919710	5919710	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr9:5919710C>G	ENST00000399933.3	-	8	6285	c.6286G>C	c.(6286-6288)Gag>Cag	p.E2096Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E2066Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	2096										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCAGGCTTCTCTAAGCCCGAC	0.408000													4	2					0	0	1	0	0
SKOR2	652991	broad.mit.edu	37	18	44775012	44775012	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr18:44775012G>A	ENST00000425639.1	-	1	542	c.543C>T	c.(541-543)ttC>ttT	p.F181F	SKOR2_ENST00000400404.1_Silent_p.F181F	NM_001278063.1	NP_001264992.1	Q2VWA4	SKOR2_HUMAN	SKI family transcriptional corepressor 2	181					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|SMAD binding|transcription corepressor activity|transcription repressor activity			endometrium(1)	1						TGTTGGGCGAGAAGTACATGT	0.602000													3	0					0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116287515	116287515	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:116287515C>G	ENST00000261448.5	-	2	492	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q	CASQ2_ENST00000456138.2_Missense_Mutation_p.E85Q	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	85					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)		GCTTTATGTTCAAGGACCTGG	0.413000													33	47					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29068983	29068983	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:29068983C>T	ENST00000373812.3	+	4	563	c.201C>T	c.(199-201)tcC>tcT	p.S67S	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Silent_p.S67S|YTHDF2_ENST00000541996.1_Silent_p.S17S	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	67					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGCTTCTCCTATTCTTTGG	0.463000													47	73					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144899771	144899771	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:144899771G>A	ENST00000526683.1	-	9	1554	c.999C>T	c.(997-999)atC>atT	p.I333I	PUF60_ENST00000527197.1_Silent_p.I287I|PUF60_ENST00000453551.2_Silent_p.I290I|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000349157.6_Silent_p.I316I|PUF60_ENST00000313352.7_Silent_p.I273I|PUF60_ENST00000456095.2_Silent_p.I304I	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	333	Ala-rich.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	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;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTGAGCTGTGATCTTGGCAG	0.642000													17	24					0	0	1	0	0
COX11	1353	broad.mit.edu	37	17	53045651	53045651	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:53045651G>C	ENST00000299335.3	-	1	495	c.357C>G	c.(355-357)ctC>ctG	p.L119L	COX11_ENST00000571584.1_Silent_p.L119L	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	119					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						CCTGGCAATAGAGCCGATAAA	0.687000													11	30					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140449096	140449096	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:140449096G>A	ENST00000288602.6	-	16	2043	c.1983C>T	c.(1981-1983)aaC>aaT	p.N661N		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	661	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CCTGGTCCCTGTTGTTGATGT	0.363000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				20	30					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	209994	209994	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr18:209994G>A	ENST00000261601.7	+	14	1279	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	USP14_ENST00000400266.3_Silent_p.Q385Q|USP14_ENST00000582707.1_Silent_p.Q361Q|USP14_ENST00000383589.2_Silent_p.Q350Q	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GTAGTCCCCAGAAAGAAGTTA	0.284000													17	29					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18219530	18219530	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:18219530G>A	ENST00000406438.3	+	1	907	c.427G>A	c.(427-429)Gac>Aac	p.D143N		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	143										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TACCCTATACGACCTGGAGGC	0.537000													18	52					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163992	151163992	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:151163992C>T	ENST00000282466.3	-	4	3776	c.3777G>A	c.(3775-3777)gtG>gtA	p.V1259V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1259					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATTTGCATCACACTTGTTG	0.443000													48	68					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2213555	2213555	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:2213555C>T	ENST00000398665.3	+	17	1611	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	525						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.L525L(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCCAGCTCCTGGGTGCGG	0.617000													24	29					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699799	151699799	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:151699799G>A	ENST00000392800.2	+	6	913	c.659G>A	c.(658-660)gGg>gAg	p.G220E	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Splice_Site_p.G220E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	220	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GCCTCCCCAGGGGATGTTCTG	0.483000													18	23					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40359700	40359700	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:40359700G>A	ENST00000293328.3	-	16	2121	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	651	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACCGAATGGAGAAGTCTCTGG	0.398000													18	40					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143114262	143114262	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:143114262T>C	ENST00000513000.1	-	16	1592	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G	INPP4B_ENST00000262992.4_Missense_Mutation_p.R387G|INPP4B_ENST00000509777.1_Missense_Mutation_p.R387G|INPP4B_ENST00000308502.4_Missense_Mutation_p.R387G|INPP4B_ENST00000508116.1_Missense_Mutation_p.R387G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	387					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTTTCAAATCTATGGAGTAGC	0.428000													46	57					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991244	21991244	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21991244G>A	ENST00000327430.3	-	2	2912	c.2618C>T	c.(2617-2619)tCa>tTa	p.S873L	SALL2_ENST00000450879.2_Missense_Mutation_p.S736L|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	873							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S873L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGCCGGACTTGAGCTTCTCTC	0.597000													19	25					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134254236	134254236	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:134254236G>C	ENST00000457545.2	+	5	650	c.390G>C	c.(388-390)ctG>ctC	p.L130L	AKR1B15_ENST00000423958.1_Silent_p.L102L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	130							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACCTGAAGCTGAGCTATCTGG	0.483000													43	43					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60718865	60718865	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:60718865G>A	ENST00000227880.3	-	1	392	c.159C>T	c.(157-159)acC>acT	p.T53T		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	53					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CGAGGTTGGCGGTGACGCCGA	0.726000													4	8					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820080	159820080	+	RNA	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:159820080G>A	ENST00000497452.1	-	0	517																											GCCTGAAGATGAAGGCCATAC	0.433000													52	61					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111319620	111319620	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:111319620G>A	ENST00000352690.4	+	7	1186	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	CD96_ENST00000283285.5_Missense_Mutation_p.E332K|CD96_ENST00000438817.2_Missense_Mutation_p.E316K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	332	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TGGATTTTTGGAACTGAAGTC	0.378000									Opitz Trigonocephaly syndrome				29	41					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12776571	12776571	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:12776571G>A	ENST00000456935.2	-	2	248	c.208C>T	c.(208-210)Cac>Tac	p.H70Y	CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.H67Y|MAN2B1_ENST00000221363.4_Missense_Mutation_p.H70Y	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	70					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCATGTGTGTGAGGCAGCAGG	0.572000													19	42					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427830	10427830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:10427830G>A	ENST00000245503.5	-	35	5512	c.5128C>T	c.(5128-5130)Cag>Tag	p.Q1710*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q1710*|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1710					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGAGCTCCTGTTCTGCGATT	0.537000													28	50					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73069282	73069282	+	RNA	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chrX:73069282G>A	ENST00000429829.1	-	0	3306					NR_001564.2																						CAGTACACAAGAAAAGATCAC	0.393000													22	4					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40831554	40831554	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:40831554C>G	ENST00000396617.3	-	5	602	c.12G>C	c.(10-12)ttG>ttC	p.L4F	MKL1_ENST00000402042.1_Missense_Mutation_p.L4F|MKL1_ENST00000402630.1_Missense_Mutation_p.L4F|MKL1_ENST00000407029.1_Missense_Mutation_p.L4F|MKL1_ENST00000355630.3_Missense_Mutation_p.L4F	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	4	Mediates interaction with SCAI and ACTB (By similarity).	Breakpoint for translocation to form RBM15-MKL1.			positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGGACTTTTCAAAGCTGTTG	0.453000			T	RBM15	acute megakaryocytic leukemia								27	42					0	0	1	0	0
PSTK	118672	broad.mit.edu	37	10	124740185	124740185	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:124740185C>T	ENST00000405485.1	+	1	256	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F	PSTK_ENST00000368887.3_Missense_Mutation_p.L64F			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	64							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CGACGCGTTTCTCGCCGGGGC	0.746000											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	8					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178546	223178546	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:223178546G>C	ENST00000284476.6	+	8	3971	c.3807G>C	c.(3805-3807)caG>caC	p.Q1269H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1269					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTCTGAATCAGAGATGTAGCT	0.517000													84	100					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131620650	131620650	+	Missense_Mutation	SNP	C	C	A	rs61746588	byFrequency	TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:131620650C>A	ENST00000261654.5	+	22	2895	c.2336C>A	c.(2335-2337)gCt>gAt	p.A779D	GPR133_ENST00000376682.4_Missense_Mutation_p.A465D|GPR133_ENST00000543617.1_Missense_Mutation_p.A298D|GPR133_ENST00000535015.1_Missense_Mutation_p.A811D|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	779					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGCGTGCTTGCTGTCAACGGT	0.622000													14	23					9.05144e-12	9.37782e-12	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11672460	11672460	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:11672460G>C	ENST00000262442.4	+	38	7434	c.7366G>C	c.(7366-7368)Gag>Cag	p.E2456Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2456Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCACACGAGTGAGACCATCCG	0.607000													29	24					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140528	3140528	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:3140528G>A	ENST00000252463.2	-	5	829	c.742C>T	c.(742-744)Cct>Tct	p.P248S	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P166S	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	248					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGGGCGCAAGGCTCTCCCGGC	0.597000													39	50					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13213002	13213002	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:13213002A>T	ENST00000378694.1	+	2	163	c.88A>T	c.(88-90)Aac>Tac	p.N30Y	MCM10_ENST00000484800.2_Missense_Mutation_p.N30Y|MCM10_ENST00000378714.3_Missense_Mutation_p.N30Y			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	30					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGAAGAAAATAACTTCTTGAC	0.473000													4	133					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30068951	30068951	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:30068951C>T	ENST00000331968.5	-	14	2207	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	PRKD1_ENST00000415220.2_Missense_Mutation_p.E668K	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	660	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGAGTTTTTCCATAACAACA	0.378000													47	48					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94918697	94918697	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:94918697G>A	ENST00000380009.4	+	4	699	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	165						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AATCTTATCCGTAACAGGACT	0.418000													4	121					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41941641	41941641	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr13:41941641C>A	ENST00000379406.3	+	14	1930	c.1606C>A	c.(1606-1608)Cgt>Agt	p.R536S	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	536					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GATGACCCTTCGTGCCTATGT	0.333000													37	53					8.16277e-20	8.72991e-20	1	1	0
DEFA6	1671	broad.mit.edu	37	8	6782355	6782355	+	Silent	SNP	T	T	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:6782355T>C	ENST00000297436.2	-	2	328	c.288A>G	c.(286-288)agA>agG	p.R96R		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	96					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGCAGCAGAATCTGTGGTTAA	0.433000													33	37					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8720889	8720889	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:8720889G>A	ENST00000534127.1	-	18	3154	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	ST5_ENST00000357665.1_Silent_p.F923F|ST5_ENST00000526757.1_Silent_p.F503F|ST5_ENST00000526099.1_Silent_p.F436F|ST5_ENST00000534278.1_Silent_p.F114F|ST5_ENST00000313726.6_Silent_p.F923F|ST5_ENST00000530991.1_Silent_p.F395F|ST5_ENST00000530438.1_Silent_p.F503F|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	923	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCTGCCAGGAGAAGGGGTAGA	0.617000													8	25					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84352867	84352867	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:84352867C>G	ENST00000295488.3	-	11	2407	c.2245G>C	c.(2245-2247)Gaa>Caa	p.E749Q	HELQ_ENST00000510985.1_Missense_Mutation_p.E682Q	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	749	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TTGGTGAATTCCTGAACAAGA	0.299000								Other identified genes with known or suspected DNA repair function					15	26					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10413652	10413652	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:10413652C>G	ENST00000397077.1	-	11	1940	c.1365G>C	c.(1363-1365)aaG>aaC	p.K455N	ATP2B2_ENST00000383800.4_Missense_Mutation_p.K455N|ATP2B2_ENST00000343816.4_Missense_Mutation_p.K486N|ATP2B2_ENST00000352432.4_Missense_Mutation_p.K500N|ATP2B2_ENST00000360273.2_Missense_Mutation_p.K500N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	500					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCGTGCCTGTCTTGTCTGAGC	0.557000													44	64					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78285490	78285490	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:78285490G>A	ENST00000281038.5	-	1	419	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	15					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GGGGGCGGAGGAACAGAAGCG	0.682000													16	18					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131362	150131362	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:150131362G>A	ENST00000369124.4	+	6	1152	c.874G>A	c.(874-876)Gag>Aag	p.E292K	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.E258K|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.E109K	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	292	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCGGGCTGAGGAACCCCC	0.647000													24	21					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784510	15784510	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:15784510G>A	ENST00000550308.1	+	2	551	c.171G>A	c.(169-171)cgG>cgA	p.R57R	CYP4F12_ENST00000324632.10_Silent_p.R57R	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCCAAAACGGAACTGGTTTT	0.587000													31	69					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161637	90161637	+	RNA	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:90161637G>A	ENST00000567960.1	+	0	373				TUBB8P7_ENST00000564451.1_RNA																							AAAGGAGGCTGAGAGCTGTGA	0.597000													7	35					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814068	60814068	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:60814068C>T	ENST00000544856.2	-	7	1536	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E	MARCH10_ENST00000583600.1_Silent_p.E425E|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.E387E|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Silent_p.E387E			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	387							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTCTGTCCTTCTCTGTAGCAG	0.517000													39	68					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26702082	26702082	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:26702082G>C	ENST00000529632.2	+	6	1682	c.1486G>C	c.(1486-1488)Gag>Cag	p.E496Q	SEZ6L_ENST00000248933.6_Missense_Mutation_p.E496Q|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E269Q|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E496Q|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E496Q|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E269Q|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E496Q	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	496	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTGCACTTTGAGAGGCTGTT	0.522000													18	31					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18220826	18220826	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:18220826G>T	ENST00000406438.3	+	1	2203	c.1723G>T	c.(1723-1725)Gaa>Taa	p.E575*		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	575										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGGCAGCATAGAAAACACCCC	0.517000													41	52					1.47197e-15	1.55877e-15	1	1	0
GDPGP1	390637	broad.mit.edu	37	15	90784537	90784537	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:90784537G>C	ENST00000558017.1	+	4	817	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	GDPGP1_ENST00000329600.6_Missense_Mutation_p.E133Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	133					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										CCGGCCCGGAGAAGTCCTCTT	0.592000													45	59					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587425	247587425	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:247587425C>T	ENST00000366497.2	+	4	1460	c.680C>T	c.(679-681)gCg>gTg	p.A227V	NLRP3_ENST00000391828.3_Missense_Mutation_p.A227V|NLRP3_ENST00000391827.2_Missense_Mutation_p.A227V|NLRP3_ENST00000348069.2_Missense_Mutation_p.A227V|NLRP3_ENST00000366496.2_Missense_Mutation_p.A227V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.A227V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	227	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.A227E(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTCCAGGGGGCGGCAGGGATT	0.537000													9	22					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73921284	73921284	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:73921284G>A	ENST00000276602.6	+	1	186	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TERF1_ENST00000276603.5_Missense_Mutation_p.E55K	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	55	Asp/Glu-rich (acidic).|Poly-Glu.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggagga	0.652000													5	4					0	0	1	0	0
SNX21	90203	broad.mit.edu	37	20	44469298	44469298	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:44469298C>T	ENST00000372542.1	+	3	753	c.441C>T	c.(439-441)atC>atT	p.I147I	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.I156I|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000491381.1_Silent_p.I156I|SNX21_ENST00000462307.1_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	156	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.I156I(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				TCGCCGTGATCGGCCCAGGAC	0.647000													5	102					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56812008	56812008	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:56812008C>T	ENST00000229201.4	-	27	3515	c.3361G>A	c.(3361-3363)Gat>Aat	p.D1121N	TIMELESS_ENST00000553532.1_Missense_Mutation_p.D1122N|TIMELESS_ENST00000554616.1_Missense_Mutation_p.D619N	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1122					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCTCCTCATCAGAGCCTTGC	0.582000													66	210					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5680959	5680959	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:5680959C>T	ENST00000425013.2	-	15	2261	c.2037G>A	c.(2035-2037)ggG>ggA	p.G679G	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Silent_p.G736G	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	679					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGAGGCCAGTCCCACACTTGT	0.453000													26	26					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30632928	30632928	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:30632928G>C	ENST00000376442.3	-	6	1240	c.1045C>G	c.(1045-1047)Cag>Gag	p.Q349E		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	349					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TTGGGCTCCTGAGAGGCAGCA	0.642000													11	19					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4732894	4732894	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:4732894G>A	ENST00000354582.6	+	32	4245	c.3895G>A	c.(3895-3897)Gag>Aag	p.E1299K	ITPR1_ENST00000456211.2_Missense_Mutation_p.E1275K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E1290K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E1284K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E1284K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E1290K|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1299					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGAGATCAACGAGAGAGTTGT	0.453000													17	21					0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43596784	43596784	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:43596784G>A	ENST00000307126.5	-	1	115	c.116C>T	c.(115-117)cCa>cTa	p.P39L		NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	39							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTTTCCCTTTGGCCCCCCGCA	0.687000													9	6					0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157166350	157166350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:157166350G>T	ENST00000231198.7	+	6	1001	c.757G>T	c.(757-759)Gaa>Taa	p.E253*		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	253					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGACAAAAGAAATTAAGCT	0.453000													15	24					7.93312e-07	8.02623e-07	1	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643301	1643301	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:1643301C>G	ENST00000399682.1	-	1	67	c.23G>C	c.(22-24)gGa>gCa	p.G8A		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	8						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gccacagcctcCAGAGCAGCC	0.687000													5	133					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	66879110	66879110	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr13:66879110G>C	ENST00000544246.1	-	5	4082	c.3391C>G	c.(3391-3393)Caa>Gaa	p.Q1131E	PCDH9_ENST00000328454.5_Missense_Mutation_p.Q1097E|PCDH9_ENST00000456367.1_Missense_Mutation_p.Q1097E|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000377865.2_Missense_Mutation_p.Q1131E	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1131					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)		AAGCACTCTTGAGTGCACATC	0.468000													27	42					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172749	51172749	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:51172749C>G	ENST00000440970.1	-	2	3524	c.3093G>C	c.(3091-3093)agG>agC	p.R1031S	SALL1_ENST00000251020.4_Missense_Mutation_p.R1128S|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1128					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGAGTTCTCCTGGGCAGAG	0.562000													17	22					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120204434	120204434	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:120204434C>G	ENST00000019103.5	-	11	1308	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	347					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGAGGGGGATCAGCAGGAGAG	0.587000													27	35					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11973706	11973706	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:11973706C>T	ENST00000356352.2	-	19	4095	c.3622G>A	c.(3622-3624)Gag>Aag	p.E1208K	UPF2_ENST00000357604.5_Missense_Mutation_p.E1208K|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1208	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTCATCCTCTCTTCTTGTTCT	0.368000													23	49					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42341334	42341334	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:42341334G>C	ENST00000330743.3	-	5	1835	c.624C>G	c.(622-624)atC>atG	p.I208M	LYPD4_ENST00000343055.4_Missense_Mutation_p.I173M|LYPD4_ENST00000601246.1_Missense_Mutation_p.I173M	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	208	UPAR/Ly6.					anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAGTCACTTTGATGCTCCCAA	0.483000													35	83					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37692828	37692828	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:37692828C>G	ENST00000412232.2	+	12	1758	c.1745C>G	c.(1744-1746)cCt>cGt	p.P582R	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	582					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AACCCCCCACCTGAGCCCGAG	0.682000													4	16					0	0	1	0	0
KCTD15	79047	broad.mit.edu	37	19	34302357	34302357	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:34302357G>A	ENST00000284006.6	+	6	845	c.593G>A	c.(592-594)gGa>gAa	p.G198E	KCTD15_ENST00000430256.3_Missense_Mutation_p.G198E|KCTD15_ENST00000589786.1_Missense_Mutation_p.G198E|KCTD15_ENST00000588881.1_Missense_Mutation_p.G198E	NM_001129994.1|NM_001129995.1|NM_024076.2	NP_001123466.1|NP_001123467.1|NP_076981.2	Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15							voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CCCGAGACCGGAGACGTCATG	0.657000													12	11					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12978313	12978313	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:12978313C>G	ENST00000251472.4	+	19	2204	c.2165C>G	c.(2164-2166)tCg>tGg	p.S722W		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	722					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GAGCAGCTGTCGCAGCACGAG	0.647000													29	52					0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2097807	2097807	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:2097807C>G	ENST00000219066.1	-	1	60	c.42G>C	c.(40-42)gcG>gcC	p.A14A	TSC2_ENST00000219476.3_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	14					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						TCAGCATCCTCGCGCTCAAGG	0.711000								Base excision repair (BER), DNA glycosylases					3	9					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167674091	167674091	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:167674091G>C	ENST00000519204.1	+	26	5902	c.5784G>C	c.(5782-5784)ttG>ttC	p.L1928F	TENM2_ENST00000520394.1_Missense_Mutation_p.L1810F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1873F|TENM2_ENST00000545108.1_Missense_Mutation_p.L2048F|TENM2_ENST00000518659.1_Missense_Mutation_p.L2049F					teneurin transmembrane protein 2																		CTGGTGTCTTGAAGATGGTCA	0.532000													35	44					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242553	4242553	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:4242553G>A	ENST00000399609.3	-	6	1035	c.1023C>T	c.(1021-1023)cgC>cgT	p.R341R	SRL_ENST00000537996.1_Silent_p.R299R	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	800	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGGCGTGGATGCGGACCCGGA	0.512000													46	74					0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389402	62389402	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:62389402C>T	ENST00000531383.1	-	1	224	c.18G>A	c.(16-18)aaG>aaA	p.K6K	B3GAT3_ENST00000534026.1_Silent_p.K6K|B3GAT3_ENST00000265471.5_Silent_p.K6K			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	6					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GAAACACGTTCTTCAGCTTCA	0.726000													10	16					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91522502	91522502	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:91522502G>C	ENST00000361188.5	-	8	2204	c.993C>G	c.(991-993)ctC>ctG	p.L331L	PRC1_ENST00000361919.3_Silent_p.L331L|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Silent_p.L290L|PRC1_ENST00000394249.3_Silent_p.L331L			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	331	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGTGGAGCTGGAGCAGACTTT	0.418000													57	75					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55898469	55898469	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:55898469C>T	ENST00000447944.2	-	11	1047	c.961G>A	c.(961-963)Gag>Aag	p.E321K		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	321					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTTGTTCCTCCGTATCTAAT	0.303000													16	23					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100467235	100467235	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:100467235G>A	ENST00000240851.4	+	8	1403	c.1063G>A	c.(1063-1065)Ggg>Agg	p.G355R	TFG_ENST00000490574.1_Missense_Mutation_p.G355R|TFG_ENST00000418917.2_Missense_Mutation_p.G351R|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Missense_Mutation_p.G351R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	355					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						AAGCCAACCTGGGGCCTATCA	0.507000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								27	50					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14746057	14746057	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:14746057C>G	ENST00000284268.6	-	7	1167	c.837G>C	c.(835-837)ttG>ttC	p.L279F	ANKH_ENST00000535119.1_Missense_Mutation_p.L81F|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	279					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.L279F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATGTGGCTGTCAAAATCGCCA	0.567000													13	87					0	0	1	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20390493	20390493	+	RNA	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:20390493G>T	ENST00000430523.3	-	0	767					NR_003563.1																						TGGCTTCAGGGTTGCTGGGCA	0.607000													4	5					0.150653	0.150653	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162463736	162463736	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:162463736C>T	ENST00000306100.5	-	9	1561	c.1125G>A	c.(1123-1125)ttG>ttA	p.L375L	FSTL5_ENST00000427802.2_Silent_p.L374L|FSTL5_ENST00000536695.1_Silent_p.L374L|FSTL5_ENST00000379164.4_Silent_p.L374L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	375	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCCATTCTTCAACCAGCCAA	0.443000													34	33					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41345181	41345181	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:41345181G>A	ENST00000422280.1	+	11	1603	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	NBR1_ENST00000389312.4_Missense_Mutation_p.D382N|NBR1_ENST00000589872.1_Missense_Mutation_p.D382N|NBR1_ENST00000590996.1_Missense_Mutation_p.D382N|NBR1_ENST00000542611.1_Missense_Mutation_p.D361N|NBR1_ENST00000341165.6_Missense_Mutation_p.D382N	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	382					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAATTTGCCTGATGGGACTCA	0.443000													16	19					0	0	1	0	0
CHORDC1	26973	broad.mit.edu	37	11	89936511	89936511	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:89936511G>A	ENST00000529726.1	-	2	4103	c.190C>T	c.(190-192)Cca>Tca	p.P64S	CHORDC1_ENST00000320585.6_Missense_Mutation_p.P252S|CHORDC1_ENST00000529987.1_Missense_Mutation_p.P64S|CHORDC1_ENST00000457199.2_Missense_Mutation_p.P233S			Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	252	CHORD 1.|Interaction with PPP5C (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CTAAGTTCTGGAAGTGAGTTT	0.348000													33	50					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144899903	144899903	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:144899903G>C	ENST00000526683.1	-	9	1422	c.867C>G	c.(865-867)ctC>ctG	p.L289L	PUF60_ENST00000527197.1_Silent_p.L243L|PUF60_ENST00000453551.2_Silent_p.L246L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000349157.6_Silent_p.L272L|PUF60_ENST00000313352.7_Silent_p.L229L|PUF60_ENST00000456095.2_Silent_p.L260L	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	289	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	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;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCAGGTCAAAGAGGTTCATGG	0.652000													16	22					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124532431	124532431	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:124532431G>A	ENST00000357628.3	-	6	611	c.13C>T	c.(13-15)Cca>Tca	p.P5S	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	5					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTTGTTGCTGGAACCTAAAGA	0.318000													35	52					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112871	234112871	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:234112871G>A	ENST00000359570.5	+	28	3039	c.3039G>A	c.(3037-3039)ctG>ctA	p.L1013L	INPP5D_ENST00000455936.2_Silent_p.L777L|INPP5D_ENST00000450745.1_Silent_p.L777L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ATGGGTCCCTGAGTTCCTTCC	0.642000													9	22					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1425080	1425080	+	Silent	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:1425080G>T	ENST00000446702.2	+	19	3132	c.2505G>T	c.(2503-2505)gtG>gtT	p.V835V	CNTN6_ENST00000539053.1_Silent_p.V763V|CNTN6_ENST00000350110.2_Silent_p.V835V			Q9UQ52	CNTN6_HUMAN	contactin 6	835	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGGAAGAGTGCTGGGCTATG	0.443000													8	118					0.00307968	0.00309404	1	1	0
KCNIP1	30820	broad.mit.edu	37	5	170160900	170160900	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:170160900G>C	ENST00000328939.4	+	7	1138	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	KCNIP1_ENST00000411494.1_Missense_Mutation_p.E212Q|KCNIP1_ENST00000377360.4_Missense_Mutation_p.E210Q|KCNIP1_ENST00000520740.1_Missense_Mutation_p.E173Q|KCNIP1_ENST00000434108.1_Missense_Mutation_p.E226Q|KCNIP1_ENST00000390656.4_Missense_Mutation_p.E201Q	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	212	EF-hand 4.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCATGTCAGGAGGTAAGGAG	0.423000													14	25					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116837021	116837021	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:116837021G>C	ENST00000368599.3	+	2	850	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	267						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		GGCTGCTTCAGAGCTGCATTC	0.498000													33	46					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11973715	11973715	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:11973715C>T	ENST00000356352.2	-	19	4086	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K	UPF2_ENST00000357604.5_Missense_Mutation_p.E1205K|UPF2_ENST00000397053.2_Missense_Mutation_p.E1205K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1205	Interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTTCTTGTTCTGCCTGTTGC	0.368000													26	45					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992865	72992865	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:72992865G>C	ENST00000268489.5	-	2	1852	c.1180C>G	c.(1180-1182)Ctc>Gtc	p.L394V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	394					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGTCAAGAGACCAGCCTGG	0.617000													32	61					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36981479	36981479	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:36981479G>C	ENST00000274963.8	+	5	793	c.622G>C	c.(622-624)Gag>Cag	p.E208Q		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	208	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCGAGCGGCTGAGCTGCTGGC	0.592000													9	17					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45754466	45754466	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:45754466G>A	ENST00000290158.4	+	17	2483	c.2076G>A	c.(2074-2076)gtG>gtA	p.V692V	KPNB1_ENST00000535458.2_Silent_p.V547V|KPNB1_ENST00000537679.1_Silent_p.V476V|KPNB1_ENST00000540627.1_Silent_p.V547V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	692					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GTGACGAGGTGATGCAGCTGC	0.428000													17	63					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584487	30584487	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:30584487G>A	ENST00000562532.2	+	3	1141	c.967G>A	c.(967-969)Gtc>Atc	p.V323I		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTCGCCAGCGTCTACAAGCT	0.617000													30	24					0	0	1	0	0
ZNF605	100289635	broad.mit.edu	37	12	133502276	133502276	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:133502276C>G	ENST00000360187.4	-	5	1957	c.1609G>C	c.(1609-1611)Gaa>Caa	p.E537Q	ZNF605_ENST00000392321.3_Missense_Mutation_p.E568Q	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TTCCCACATTCACTGCATTCA	0.428000													37	59					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122985252	122985252	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:122985252C>T	ENST00000336229.4	-	1	266	c.136G>A	c.(136-138)Gac>Aac	p.D46N		NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	46						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGCTCCGCGTCGCCGACCCCA	0.647000													4	2					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893674	75893674	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:75893674G>A	ENST00000322507.8	-	9	1493	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S395L|COL12A1_ENST00000483888.2_Missense_Mutation_p.S395L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	395	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTGTCTGCTGAGAGGTCGCG	0.502000													68	90					0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003257	23003257	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:23003257G>A	ENST00000312584.3	-	5	754	c.660C>T	c.(658-660)gtC>gtT	p.V220V		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	220					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CTAAAATGATGACTAAAACCA	0.498000													18	29					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51754160	51754160	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr10:51754160G>C	ENST00000374056.4	+	3	696	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	AGAP6_ENST00000412531.3_Missense_Mutation_p.E123Q			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	123					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTTAGTTGTAGAAATAAGAAG	0.274000													13	62					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4619814	4619814	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:4619814C>T	ENST00000269260.2	+	5	501	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	ARRB2_ENST00000346341.2_Missense_Mutation_p.P75S|ARRB2_ENST00000575877.1_Missense_Mutation_p.P90S|ARRB2_ENST00000412477.3_Missense_Mutation_p.P90S|ARRB2_ENST00000381488.6_Missense_Mutation_p.P75S|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	90					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GGCCTTCCCCCCGGTGCCCAA	0.667000													11	15					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83346884	83346884	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:83346884G>A	ENST00000261722.3	-	11	1425	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	AP3B2_ENST00000535348.1_Silent_p.N374N|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.N406N	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	406					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGTAGGAATGTTGGTCTCAT	0.572000													14	19					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55169220	55169220	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:55169220G>A	ENST00000251091.5	+	2	942	c.637G>A	c.(637-639)Gag>Aag	p.E213K	SAMD4A_ENST00000554335.1_Missense_Mutation_p.E213K|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Missense_Mutation_p.E212K|SAMD4A_ENST00000392067.3_Missense_Mutation_p.E213K	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	213					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CATGGGGTGTGAGAATGGCCA	0.502000													32	45					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993086	21993086	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21993086G>T	ENST00000327430.3	-	2	1070	c.776C>A	c.(775-777)tCc>tAc	p.S259Y	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	259	Poly-Ser.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		agaggaggaggaggaggaaga	0.582000													12	26					1.08611e-07	1.10665e-07	1	1	0
MYO6	4646	broad.mit.edu	37	6	76564892	76564892	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr6:76564892T>C	ENST00000369981.3	+	12	1394	c.1115T>C	c.(1114-1116)tTg>tCg	p.L372S	MYO6_ENST00000369985.4_Missense_Mutation_p.L372S|MYO6_ENST00000369975.1_Missense_Mutation_p.L372S|MYO6_ENST00000369977.3_Missense_Mutation_p.L372S			Q9UM54	MYO6_HUMAN	myosin VI	372	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GCTCAGTCTTTGGAATATTGT	0.353000													20	20					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111319745	111319745	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:111319745G>C	ENST00000352690.4	+	7	1311	c.1071G>C	c.(1069-1071)aaG>aaC	p.K357N	CD96_ENST00000283285.5_Missense_Mutation_p.K373N|CD96_ENST00000438817.2_Missense_Mutation_p.K357N	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	373	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CATCAGAAAAGATCACTTTTC	0.358000									Opitz Trigonocephaly syndrome				19	44					0	0	1	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080532	70080532	+	RNA	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr4:70080532C>T	ENST00000505646.1	+	0	696																											TATAACTCCTCCAATCCAAAG	0.343000													22	29					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150795736	150795736	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:150795736G>C	ENST00000358595.5	-	14	1528	c.1328C>G	c.(1327-1329)tCc>tGc	p.S443C	ARNT_ENST00000515192.1_Missense_Mutation_p.S429C|ARNT_ENST00000354396.2_Missense_Mutation_p.S443C|ARNT_ENST00000505755.1_Missense_Mutation_p.S428C	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	443	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAAGTAAAGGAGCTGGTTCT	0.398000			T	ETV6	AML								31	103					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98194065	98194065	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:98194065G>A	ENST00000284049.3	-	34	4755	c.4606C>T	c.(4606-4608)Cac>Tac	p.H1536Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1536					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTATCATCGTGATTTGTATTC	0.323000													58	99					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17983443	17983443	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:17983443C>T	ENST00000222248.3	+	1	662	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	105					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCCTGCTCTTCATGCCCGTCT	0.662000													16	14					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50450406	50450406	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:50450406G>A	ENST00000331340.3	+	5	744		c.e5+1		IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Splice_Site|IKZF1_ENST00000357364.4_Splice_Site|IKZF1_ENST00000440768.2_Splice_Site|IKZF1_ENST00000439701.1_Splice_Site|IKZF1_ENST00000438033.1_Splice_Site|IKZF1_ENST00000343574.5_Splice_Site	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)						cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACGCACTCCGGTAGGTCCCCT	0.647000			"""D,T"""	BCL6	"""ALL, DLBCL"""								8	6					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21990924	21990924	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21990924G>A	ENST00000327430.3	-	2	3232	c.2938C>T	c.(2938-2940)Ctt>Ttt	p.L980F	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	980							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACTAGAGAAAGAGCAGCAATA	0.567000													5	40					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87493535	87493535	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:87493535C>T	ENST00000296595.6	-	11	1261	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V	TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000512429.1_Silent_p.V368V|TMEM161B_ENST00000514135.1_Silent_p.V379V|TMEM161B_ENST00000511218.1_Silent_p.V170V	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	379						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CCAGAGGCGCCACATACTGCA	0.423000													31	58					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49354448	49354448	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr20:49354448G>C	ENST00000371610.2	+	2	364	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	PARD6B_ENST00000396039.1_Missense_Mutation_p.E41Q	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	41	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGGAAAATTTGAGGAGTTTTA	0.328000													32	48					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74004222	74004222	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr7:74004222G>T	ENST00000476977.1	+	23	4054	c.2363G>T	c.(2362-2364)cGg>cTg	p.R788L	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R803L|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R820L|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R788L			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	803						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGATCCTGCGGGAGCAGGTG	0.597000													11	26					7.03913e-09	7.22348e-09	1	1	0
OR7A5	26659	broad.mit.edu	37	19	14938184	14938184	+	Silent	SNP	A	A	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478000													3	118					0	0	1	0	0
CCBL2	56267	broad.mit.edu	37	1	89454023	89454023	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:89454023G>A	ENST00000260508.4	-	2	348	c.11C>T	c.(10-12)gCc>gTc	p.A4V	CCBL2_ENST00000370485.2_Missense_Mutation_p.A4V|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_5'UTR|CCBL2_ENST00000446900.2_5'UTR|RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000321792.5_Intron	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	4					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCTCCTCTGGGCCAAAAACAT	0.378000													3	58					0	0	1	0	0
CREG2	200407	broad.mit.edu	37	2	101971829	101971829	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:101971829C>T	ENST00000324768.5	-	3	749		c.e3-1			NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2							extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GATGTTTTTTCTGCATGTGAA	0.398000													5	13					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47858559	47858559	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:47858559C>T	ENST00000328771.4	+	3	1318	c.969C>T	c.(967-969)ttC>ttT	p.F323F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	323	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCAGCTATTTCAGCAATGCCC	0.607000													39	73					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133672601	133672601	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:133672601G>C	ENST00000310926.4	-	5	903	c.630C>G	c.(628-630)atC>atG	p.I210M	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.I134M	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	210					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGGCAAATAAGATGGCTGGAA	0.507000													17	15					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585233	1585233	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chrX:1585233G>A	ENST00000381297.4	-	2	429	c.219C>T	c.(217-219)gcC>gcT	p.A73A		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	73						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAACACGCTGGCCAGCATCA	0.577000			T	CRLF2	"""B-ALL, Downs associated ALL"""								12	26					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41556688	41556688	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr22:41556688G>T	ENST00000263253.7	+	20	4852	c.3633G>T	c.(3631-3633)gaG>gaT	p.E1211D		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1211					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCAAGGGGAGAGCGTTTCTT	0.458000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				17	33					0.000958276	0.000964992	1	1	0
MGAT5B	146664	broad.mit.edu	37	17	74921105	74921105	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:74921105C>T	ENST00000569840.2	+	9	1657	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	MGAT5B_ENST00000428789.2_Silent_p.F372F|MGAT5B_ENST00000301618.4_Silent_p.F361F	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	361						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCTGCCCTTCGACCTCATCT	0.617000													40	52					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99895254	99895254	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:99895254C>T	ENST00000421999.2	+	9	897	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	CMSS1_ENST00000489081.1_Missense_Mutation_p.P233S	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		GATGGACATTCCCGAGGTACC	0.418000													18	16					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23390051	23390051	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:23390051C>G	ENST00000343070.2	+	11	1605	c.1429C>G	c.(1429-1431)Cag>Gag	p.Q477E	SCNN1B_ENST00000307331.5_Missense_Mutation_p.Q522E|SCNN1B_ENST00000568923.1_Missense_Mutation_p.Q450E|SCNN1B_ENST00000568085.1_Missense_Mutation_p.Q441E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	477					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGTCTTGTCTCAGGAGCGGGA	0.592000													12	28					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010646	70010646	+	RNA	SNP	G	G	A	rs149870591	by1000genomes	TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:70010646G>A	ENST00000531894.1	-	0	3748					NR_003610.1																						CTGTAGGGCCGAAGAAGGGAA	0.478000													4	63					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									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)		GAAATCTCTTTATAAAACCTT	0.343000													5	119					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996651	143996651	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr8:143996651C>G	ENST00000323110.2	-	3	408	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	136					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AAGCGCCATTCAGGCCCATTC	0.622000									Familial Hyperaldosteronism type I				4	14					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794190	140794190	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr5:140794190C>A	ENST00000398610.2	+	1	1448	c.1448C>A	c.(1447-1449)cCg>cAg	p.P483Q	PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGGACCCGGACAGCAAA	0.512000													55	63					5.22555e-25	5.63053e-25	1	1	0
SLC22A20	440044	broad.mit.edu	37	11	65009482	65009482	+	RNA	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:65009482G>A	ENST00000525437.1	+	0	2450							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCTCTTCCAAGAAACATGTAG	0.502000													8	11					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79970157	79970157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr17:79970157C>T	ENST00000306729.7	+	12	1448	c.1351C>T	c.(1351-1353)Cag>Tag	p.Q451*	ASPSCR1_ENST00000580534.1_Nonsense_Mutation_p.Q399*|ASPSCR1_ENST00000306739.4_Nonsense_Mutation_p.Q451*	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	451	UBX.						protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GACCCTCTTTCAGGTACCTGA	0.662000			T	TFE3	alveolar soft part sarcoma								15	27					0	0	1	0	0
CHORDC1	26973	broad.mit.edu	37	11	89944481	89944481	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:89944481T>C	ENST00000320585.6	-	5	744	c.335A>G	c.(334-336)gAt>gGt	p.D112G	CHORDC1_ENST00000457199.2_Missense_Mutation_p.D93G	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	112	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CATTGGTTCATCTGGGCTGGA	0.308000													42	69					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991960	21991960	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:21991960G>A	ENST00000327430.3	-	2	2196	c.1902C>T	c.(1900-1902)gtC>gtT	p.V634V	SALL2_ENST00000450879.2_Silent_p.V497V|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	634							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGAGACAGATGACACACTGGT	0.592000													23	22					0	0	1	0	0
NR2C2	7182	broad.mit.edu	37	3	15064803	15064803	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr3:15064803G>A	ENST00000425241.1	+	6	1015	c.653G>A	c.(652-654)aGa>aAa	p.R218K	NR2C2_ENST00000406272.2_Missense_Mutation_p.R218K|NR2C2_ENST00000393102.3_Missense_Mutation_p.R218K|NR2C2_ENST00000323373.6_Missense_Mutation_p.R237K			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	218					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAGACCTGAGAAGTCCCCTG	0.498000													51	68					0	0	1	0	0
TEX30	93081	broad.mit.edu	37	13	103418774	103418774	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr13:103418774C>T	ENST00000376019.1	-	4	1374	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	TEX30_ENST00000376021.4_Missense_Mutation_p.E180K|TEX30_ENST00000376029.3_3'UTR|TEX30_ENST00000376027.1_3'UTR|TEX30_ENST00000376032.4_Missense_Mutation_p.E221K|TEX30_ENST00000376022.1_3'UTR			Q5JUR7	CM027_HUMAN	testis expressed 30	221										lung(1)|urinary_tract(1)	2						TTGTCCATTTCAGTAATTTCT	0.338000													10	60					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1580613	1580613	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:1580613C>G	ENST00000407249.3	-	7	513	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	CDK11B_ENST00000317673.7_Missense_Mutation_p.E170Q|CDK11B_ENST00000341832.6_Missense_Mutation_p.E125Q|CDK11B_ENST00000340677.5_Missense_Mutation_p.E159Q			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	169	Glu-rich.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TCTAACTGCTCCAAGCGGTCC	0.582000													10	41					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114002099	114002099	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:114002099C>T	ENST00000429538.3	-	4	488	c.294G>A	c.(292-294)caG>caA	p.Q98Q	PAX8_ENST00000263334.5_Silent_p.Q98Q|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Silent_p.Q98Q|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263335.7_Silent_p.Q98Q|PAX8_ENST00000348715.5_Silent_p.Q98Q|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000445745.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	98	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGGTAGGGTTCTGGCGTTTGT	0.582000			T	PPARG	follicular thyroid		Thyroid dysgenesis						132	162					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284867	223284867	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:223284867G>A	ENST00000540964.1	-	4	1968	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	TLR5_ENST00000342210.6_Missense_Mutation_p.H503Y			O60602	TLR5_HUMAN	toll-like receptor 5	503			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ACTTGAAGATGAGAAAGTCCC	0.413000													23	69					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44165803	44165803	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:44165803A>G	ENST00000358681.4	+	8	1346	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	EXT2_ENST00000343631.3_Intron|EXT2_ENST00000395673.3_Intron|EXT2_ENST00000533608.1_Intron	NM_001178083.1	NP_001171554.1	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	391					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCAGCTCTTCATGGAACCAGC	0.428000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				30	59					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72270610	72270610	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:72270610G>A	ENST00000356056.5	-	12	2218	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	MYO9A_ENST00000424560.1_Silent_p.I582I|MYO9A_ENST00000564571.1_Silent_p.I582I|MYO9A_ENST00000444904.1_Silent_p.I563I|MYO9A_ENST00000566885.1_Silent_p.I177I|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	582	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTGCCAGCTGATACCTTCAG	0.303000													57	61					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28517458	28517458	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr15:28517458G>A	ENST00000261609.7	-	9	1094	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	329					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S329F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCCTGGGCGGAACGCTCATT	0.542000													4	33					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60752365	60752365	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr14:60752365G>A	ENST00000395076.4	+	3	1288	c.858G>A	c.(856-858)gtG>gtA	p.V286V	PPM1A_ENST00000325658.3_Silent_p.V286V|PPM1A_ENST00000325642.3_Silent_p.V359V|PPM1A_ENST00000529574.1_Silent_p.V286V	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	286					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ACATGAGTGTGATTTTGATCT	0.418000													27	33					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56872853	56872853	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:56872853C>G	ENST00000311966.4	-	4	795	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	GLS2_ENST00000539272.1_Intron	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	173					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAGTGAGCTCTTTGACATCC	0.473000													57	64					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16462198	16462199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:16462198_16462199insG	ENST00000358432.5	-	6	1533_1534	c.1379_1380insC	c.(1378-1380)ccgfs	p.P460fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	460	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCTGCTGCGGCGGGGGGATGCT	0.663													45	21	---	---	---	---					
ARHGAP29	9411	broad.mit.edu	37	1	94670623	94670624	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:94670623_94670624insA	ENST00000260526.6	-	7	872_873	c.690_691insT	c.(688-693)cttaacfs	p.N231fs	ARHGAP29_ENST00000370217.3_Frame_Shift_Ins_p.N231fs	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	231					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCACCCAAGTTAAGCTTTTTTT	0.307													49	58	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329					NR_104189.1																						ATTTCGCCCTCCACCGCCGCCGC	0.631													3	4	---	---	---	---					
FAM168B	130074	broad.mit.edu	37	2	131813228	131813228	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr2:131813228delG	ENST00000409185.1	-	4	302	c.195delC	c.(193-195)cccfs	p.P65fs	FAM168B_ENST00000389915.3_Frame_Shift_Del_p.P65fs	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	65										endometrium(3)|lung(2)	5						CCCCGCTGGTGGGGGAACAGG	0.617													15	24	---	---	---	---					
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	NM_017561.1	NP_060031.1			NUT family member 2F									p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611													6	3	---	---	---	---					
TSC1	7248	broad.mit.edu	37	9	135798773	135798774	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr9:135798773_135798774delAT	ENST00000298552.3	-	6	690_691	c.469_470delAT	c.(469-471)attfs	p.I157fs	TSC1_ENST00000545250.1_Frame_Shift_Del_p.I106fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.I157fs|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Frame_Shift_Del_p.I157fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	157					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACGGCCAAAAATGTCAAAGAAA	0.446			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				17	8	---	---	---	---					
APOA5	116519	broad.mit.edu	37	11	116661644	116661644	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr11:116661644delC	ENST00000542499.1	-	4	373	c.301delG	c.(301-303)gagfs	p.E102fs	APOA5_ENST00000227665.4_Frame_Shift_Del_p.E102fs	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	102					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TTCACCTCCTCCAACTCCTCC	0.637													30	33	---	---	---	---					
ABCC9	10060	broad.mit.edu	37	12	21981961	21981961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:21981961delT	ENST00000261200.4	-	29	3599	c.3600delA	c.(3598-3600)gaafs	p.E1200fs	ABCC9_ENST00000261201.4_Frame_Shift_Del_p.E1200fs|ABCC9_ENST00000345162.2_Frame_Shift_Del_p.E1164fs|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1200	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TATCCGTCAGTTCCAGCATAC	0.408													47	62	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082491	76082491	+	RNA	DEL	T	T	-	rs141632958		TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr12:76082491delT	ENST00000552856.1	-	0	401																											attctTTTTCTTTTTTTTTTT	0.363													2	4	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300006	67300006	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr16:67300006delC	ENST00000299798.11	+	15	2161	c.2096delC	c.(2095-2097)accfs	p.T699fs		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	699					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGATATTAACCGTGGAGTCT	0.572													10	25	---	---	---	---					
CAMSAP3	57662	broad.mit.edu	37	19	7675769	7675769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr19:7675769delC	ENST00000446248.2	+	10	1183	c.1082delC	c.(1081-1083)tccfs	p.S361fs	CAMSAP3_ENST00000160298.4_Frame_Shift_Del_p.S334fs	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	334					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCAGCTGCCTCCCCCCGGGGC	0.692													19	45	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-4Z-AA7Y-01A-11D-A391-08	TCGA-4Z-AA7Y-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a908014-c2cf-4ff1-b250-3ef82312917a	d50dde9a-033c-4f9a-88df-fc82368657de	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									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)		catcaccaccaccaccatcacc	0.579													3	6	---	---	---	---