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
NRP1	8829	broad.mit.edu	37	10	33469270	33469270	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:33469270C>T	ENST00000265371.4	-	18	3031	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	NRP1_ENST00000374867.2_Missense_Mutation_p.E836K|NRP1_ENST00000374875.1_Missense_Mutation_p.E648K|NRP1_ENST00000395995.1_Missense_Mutation_p.E819K			O14786	NRP1_HUMAN	neuropilin 1	836					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTTCTCCTTCACCTTCGTAT	0.488000													50	73					0	0	0.014410	0	0
TECPR2	9895	broad.mit.edu	37	14	102898165	102898165	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:102898165G>C	ENST00000359520.7	+	8	1343	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	TECPR2_ENST00000558678.1_Missense_Mutation_p.E373Q	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	373							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGGATGCTCAGAGCGTGTCCA	0.557000													25	70					0	0	0.018920	0	0
TRGV2	6974	broad.mit.edu	37	7	38402529	38402529	+	RNA	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:38402529C>G	ENST00000426402.2	-	0	479																											CAGTATCAATCTCAAGTTGTT	0.453000													10	23					0	0	0.008291	0	0
ICAM1	3383	broad.mit.edu	37	19	10395565	10395565	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:10395565C>G	ENST00000264832.3	+	6	1612	c.1287C>G	c.(1285-1287)ctC>ctG	p.L429L	ICAM1_ENST00000423829.2_Silent_p.L207L|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	429	Ig-like C2-type 5.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGCCCGAGCTCAAGTGTCTAA	0.582000													13	25					0	0	0.016723	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110029717	110029717	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:110029717G>C	ENST00000369870.3	+	4	402	c.387G>C	c.(385-387)gtG>gtC	p.V129V		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	129										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCATGTAGTGAATGGGCAGG	0.637000													8	7					0	0	0.003080	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588796	33588796	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:33588796C>T	ENST00000504830.1	-	18	3108	c.2773G>A	c.(2773-2775)Gac>Aac	p.D925N	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D840N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	925	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTGGCAGTCTGTGGGCGGG	0.627000										HNSCC(64;0.19)			29	77					0	0	0.006320	0	0
MYOM1	8736	broad.mit.edu	37	18	3119940	3119940	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:3119940G>A	ENST00000400569.3	-	20	3378	c.3045C>T	c.(3043-3045)aaC>aaT	p.N1015N	MYOM1_ENST00000261606.7_Silent_p.N919N|MYOM1_ENST00000356443.4_Silent_p.N1015N			P52179	MYOM1_HUMAN	myomesin 1	1015	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCAGCCATGTTCATGGCTG	0.502000													3	4					0	0	0.014758	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943203	26943203	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26943203C>T	ENST00000528896.2	-	37	6375	c.6301G>A	c.(6301-6303)Gac>Aac	p.D2101N	SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D1958N|KIAA0100_ENST00000544884.1_Missense_Mutation_p.D1958N|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2101						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGTCAATGTCATCCACAGGG	0.478000													11	28					0	0	0.008291	0	0
ICA1L	130026	broad.mit.edu	37	2	203653802	203653802	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:203653802C>G	ENST00000392237.2	-	12	1151	c.994G>C	c.(994-996)Gat>Cat	p.D332H	ICA1L_ENST00000358299.2_Missense_Mutation_p.D332H	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	332										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGGTAGATCTTTTGCAACT	0.323000													14	39					0	0	0.003163	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008291	27008291	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:27008291C>G	ENST00000314616.6	+	12	1650	c.1367C>G	c.(1366-1368)tCa>tGa	p.S456*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.S456*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	456					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATGTCCAATCAATGGATGAG	0.443000													20	41					0	0	0.010504	0	0
RPP25L	138716	broad.mit.edu	37	9	34611268	34611268	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:34611268G>A	ENST00000297613.4	-	2	306	c.26C>T	c.(25-27)tCt>tTt	p.S9F	RPP25L_ENST00000378959.4_Missense_Mutation_p.S9F	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN	ribonuclease P/MRP 25kDa subunit-like	9							nucleic acid binding										GAGCTCTACAGAGCCAGCTTT	0.577000													5	14					0	0	0.001168	0	0
ANKRD1	27063	broad.mit.edu	37	10	92672725	92672725	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:92672725C>A	ENST00000371697.3	-	9	1106	c.858G>T	c.(856-858)aaG>aaT	p.K286N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	286					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CCATCGGCGTCTTCCCAGCCT	0.448000													34	49					7.11191e-15	7.96416e-15	0.013726	1	0
NFKB2	4791	broad.mit.edu	37	10	104156527	104156527	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:104156527G>A	ENST00000369966.3	+	5	440	c.190G>A	c.(190-192)Gga>Aga	p.G64R	NFKB2_ENST00000189444.6_Missense_Mutation_p.G64R|NFKB2_ENST00000428099.1_Missense_Mutation_p.G64R	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	64	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CTCCCATGGAGGACTGCCCGG	0.592000			T	IGH@	B-NHL								6	76					0	0	0.001984	0	0
VSIG8	391123	broad.mit.edu	37	1	159825827	159825827	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:159825827G>A	ENST00000368100.1	-	6	952	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L		NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	273						integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					AGCGCGAGCAGAGAGCCCAGG	0.692000													8	8					0	0	0.006214	0	0
ZNF208	7757	broad.mit.edu	37	19	22154750	22154750	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:22154750T>C	ENST00000397126.4	-	4	3234	c.3086A>G	c.(3085-3087)tAc>tGc	p.Y1029C	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTGTCTC	0.418000													24	47					0	0	0.018920	0	0
UBE2L6	9246	broad.mit.edu	37	11	57327878	57327878	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:57327878G>T	ENST00000287156.4	-	2	250	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	19					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						AGGTATGGGGGAGGCTTCTTC	0.592000													16	64					1.3612e-06	1.45231e-06	0.003163	1	0
MGAT3	4248	broad.mit.edu	37	22	39883792	39883792	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr22:39883792G>A	ENST00000341184.6	+	2	655	c.440G>A	c.(439-441)cGg>cAg	p.R147Q		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	147					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TCGGCCCGGCGGCCACCCCGG	0.766000													3	0					0	0	0.004672	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801665	140801665	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:140801665G>A	ENST00000398587.2	+	1	904	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.E291K|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGCTTCTGAAATATTCCA	0.428000													38	92					0	0	0.010771	0	0
ICAM1	3383	broad.mit.edu	37	19	10395527	10395527	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:10395527C>G	ENST00000264832.3	+	6	1574	c.1249C>G	c.(1249-1251)Cca>Gca	p.P417A	ICAM1_ENST00000423829.2_Missense_Mutation_p.P195A|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	417	Ig-like C2-type 5.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCAGCAGACTCCAATGTGCCA	0.557000													15	34					0	0	0.003163	0	0
RABEPK	10244	broad.mit.edu	37	9	127996161	127996161	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:127996161G>A	ENST00000373538.3	+	8	1331	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.E290K|RABEPK_ENST00000394125.4_Missense_Mutation_p.E341K	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	341					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGACTCACATGAGGAAAGCCA	0.438000													32	65					0	0	0.009535	0	0
FSIP2	401024	broad.mit.edu	37	2	186673576	186673576	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:186673576G>C	ENST00000343098.5	+	17	19810	c.19810G>C	c.(19810-19812)Gag>Cag	p.E6604Q	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6515Q	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTTATCTGAAGAGGAATCTCC	0.303000													12	29					0	0	0.010729	0	0
RICTOR	253260	broad.mit.edu	37	5	38955780	38955780	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:38955780C>T	ENST00000357387.3	-	26	2556	c.2526G>A	c.(2524-2526)ttG>ttA	p.L842L	RICTOR_ENST00000296782.5_Silent_p.L842L|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	842					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GTTCCTCAATCAAGTCAACAT	0.358000													12	54					0	0	0.013537	0	0
WDR90	197335	broad.mit.edu	37	16	708543	708543	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:708543G>A	ENST00000549091.1	+	23	2877	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	WDR90_ENST00000293879.4_Missense_Mutation_p.E929K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	929										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGTCCACCCTGAGCCCTGCCC	0.662000													29	67					0	0	0.009535	0	0
ANAPC7	51434	broad.mit.edu	37	12	110825668	110825668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:110825668C>G	ENST00000455511.3	-	5	652	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Missense_Mutation_p.E218Q	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GATGCCACCTCTGCCCCTTTT	0.473000													9	14					0	0	0.006214	0	0
MIOS	54468	broad.mit.edu	37	7	7612191	7612191	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:7612191C>G	ENST00000340080.4	+	4	506	c.85C>G	c.(85-87)Cat>Gat	p.H29D	MIOS_ENST00000405785.1_Missense_Mutation_p.H29D	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	29										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGTCTTTATCATGTGGAATC	0.383000													9	28					0	0	0.004482	0	0
SCARA3	51435	broad.mit.edu	37	8	27507313	27507313	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:27507313G>C	ENST00000301904.3	+	2	122	c.102G>C	c.(100-102)caG>caC	p.Q34H	SCARA3_ENST00000337221.4_Missense_Mutation_p.Q34H	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	34					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATGCACCCAGAAGGGTAAGG	0.592000													8	17					0	0	0.003080	0	0
C11orf40	143501	broad.mit.edu	37	11	4593489	4593489	+	Missense_Mutation	SNP	G	G	C	rs141444146		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:4593489G>C	ENST00000307616.1	-	3	343	c.344C>G	c.(343-345)tCt>tGt	p.S115C		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	115										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCAGGAAATAGAGATTCCACT	0.458000													11	27					0	0	0.013537	0	0
CFH	3075	broad.mit.edu	37	1	196697596	196697596	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:196697596G>T	ENST00000367429.4	+	15	2597	c.2357G>T	c.(2356-2358)gGa>gTa	p.G786V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	786	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAAAAGAAGGATGGATACAC	0.318000													9	25					0.000442599	0.000461325	0.006214	1	0
NUP85	79902	broad.mit.edu	37	17	73231679	73231679	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:73231679G>A	ENST00000245544.4	+	19	1947	c.1876G>A	c.(1876-1878)Gac>Aac	p.D626N	NUP85_ENST00000579298.1_Missense_Mutation_p.D581N|NUP85_ENST00000540768.1_Missense_Mutation_p.D229N|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000579324.1_Missense_Mutation_p.D514N|NUP85_ENST00000541827.1_Missense_Mutation_p.D580N	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	626					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GCAGGATGATGACATAGAGAC	0.502000													19	31					0	0	0.014323	0	0
HSD3B7	80270	broad.mit.edu	37	16	30997087	30997087	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:30997087C>T	ENST00000262520.6	+	2	398	c.108C>T	c.(106-108)ctC>ctT	p.L36L	HSD3B7_ENST00000297679.5_Silent_p.L36L|HSD3B7_ENST00000353250.5_Silent_p.L36L|AC135048.1_ENST00000602217.1_Silent_p.P149P	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	36					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCCCGGCTCGGGGAGCTGC	0.642000													5	6					0	0	0.014758	0	0
PANX1	24145	broad.mit.edu	37	11	93911662	93911662	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:93911662A>G	ENST00000227638.3	+	3	834	c.449A>G	c.(448-450)tAc>tGc	p.Y150C	PANX1_ENST00000436171.2_Missense_Mutation_p.Y150C	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	150					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GACAAAGTTTACAACCGTGCA	0.498000													13	47					0	0	0.013537	0	0
BMF	90427	broad.mit.edu	37	15	40396430	40396430	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:40396430C>T	ENST00000354670.4	-	4	638	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	BMF_ENST00000397573.1_Missense_Mutation_p.R135Q|BMF_ENST00000559701.1_Intron|BMF_ENST00000431415.3_Intron|BMF_ENST00000558774.1_Intron|BMF_ENST00000220446.4_Intron|BMF_ENST00000561360.1_Missense_Mutation_p.R135Q|BMF_ENST00000561282.1_Missense_Mutation_p.R135Q	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	135					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CTGAAGCTTTCGGGCAATCTG	0.597000													28	93					0	0	0.005443	0	0
FAHD2B	151313	broad.mit.edu	37	2	97757424	97757424	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:97757424C>T	ENST00000414820.1	-	3	290	c.20G>A	c.(19-21)aGa>aAa	p.R7K	FAHD2B_ENST00000272610.3_Missense_Mutation_p.R7K|FAHD2B_ENST00000440566.2_Missense_Mutation_p.R7K|FAHD2B_ENST00000468548.1_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	7							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GAGTAATCTTCTTCTACCAGA	0.547000													20	50					0	0	0.007413	0	0
BACH2	60468	broad.mit.edu	37	6	90642373	90642373	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:90642373G>A	ENST00000257749.4	-	9	2987	c.2280C>T	c.(2278-2280)tgC>tgT	p.C760C	BACH2_ENST00000537989.1_Silent_p.C760C|BACH2_ENST00000343122.3_Silent_p.C760C	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	760						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCCACTGCGCATTGGGAGG	0.637000													11	34					0	0	0.013537	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717102	195717102	+	RNA	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:195717102A>G	ENST00000427841.1	-	0	48					NR_003264.2																						GCGCTTGGCAACCGCGACAGG	0.776000													3	4					0	0	0.014758	0	0
COLEC12	81035	broad.mit.edu	37	18	346369	346369	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:346369G>A	ENST00000400256.3	-	5	1460	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	418					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CATAATCACTGATAAGTTGGC	0.378000													7	53					0	0	0.001984	0	0
ANKRD46	157567	broad.mit.edu	37	8	101540176	101540176	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:101540176C>G	ENST00000520311.1	-	4	1170	c.367G>C	c.(367-369)Gat>Cat	p.D123H	ANKRD46_ENST00000335659.3_Missense_Mutation_p.D123H|ANKRD46_ENST00000519316.1_Intron|ANKRD46_ENST00000519597.1_Missense_Mutation_p.D123H|ANKRD46_ENST00000520552.1_Missense_Mutation_p.D123H	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	123						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CGGATGACATCTTTATTTACT	0.383000													22	67					0	0	0.018920	0	0
LRFN2	57497	broad.mit.edu	37	6	40360393	40360393	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:40360393G>A	ENST00000338305.6	-	3	2201	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	553						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGCACCATGAGGATGACGA	0.632000													11	22					0	0	0.008291	0	0
DIDO1	11083	broad.mit.edu	37	20	61512446	61512446	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61512446G>A	ENST00000266070.4	-	16	5187	c.4862C>T	c.(4861-4863)tCg>tTg	p.S1621L	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1621L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1621					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTTCGCCCGAAGCCCAGGG	0.711000													7	8					0	0	0.001984	0	0
FBXL20	84961	broad.mit.edu	37	17	37431242	37431242	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:37431242G>C	ENST00000264658.6	-	10	1068	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	FBXL20_ENST00000394294.3_Missense_Mutation_p.Q238E|FBXL20_ENST00000583610.1_Missense_Mutation_p.Q270E|FBXL20_ENST00000577399.1_Missense_Mutation_p.Q272E	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	270						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GGGCAGTTCTGACCTAGAGCA	0.418000													11	48					0	0	0.010729	0	0
GOSR2	9570	broad.mit.edu	37	17	45012562	45012562	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45012562G>A	ENST00000415811.2	+	5	559	c.504G>A	c.(502-504)gaG>gaA	p.E168E	GOSR2_ENST00000225567.4_Intron|GOSR2_ENST00000576910.2_Intron|GOSR2_ENST00000439730.2_Intron|RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000393456.2_Intron	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	163					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			GGGACAGAGAGAAGGCCTCTT	0.448000													23	58					0	0	0.016522	0	0
OR5D18	219438	broad.mit.edu	37	11	55587651	55587651	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:55587651C>G	ENST00000333976.4	+	1	566	c.546C>G	c.(544-546)ttC>ttG	p.F182L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F182L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTGTGAGTTCTCCTCACTAC	0.428000													29	76					0	0	0.008361	0	0
LEF1	51176	broad.mit.edu	37	4	108999479	108999479	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:108999479G>A	ENST00000379951.2	-	7	2009	c.821C>T	c.(820-822)cCt>cTt	p.P274L	LEF1_ENST00000510624.1_Missense_Mutation_p.P206L|LEF1_ENST00000265165.1_Missense_Mutation_p.P302L|LEF1_ENST00000438313.2_Missense_Mutation_p.P274L|LEF1_ENST00000503879.1_5'UTR	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	302					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGCATTCAGAGGCTTCTTAAT	0.443000													72	166					0	0	0.014410	0	0
PURG	29942	broad.mit.edu	37	8	30890034	30890034	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:30890034C>T	ENST00000475541.1	-	1	1197	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	PURG_ENST00000339382.2_Missense_Mutation_p.E89K	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	89						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		ATCCAGACTTCGGCTATCTTT	0.542000													16	27					0	0	0.003163	0	0
RBM10	8241	broad.mit.edu	37	X	47044531	47044531	+	Silent	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:47044531C>A	ENST00000377604.3	+	18	2770	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	RBM10_ENST00000329236.7_Silent_p.I598I|RBM10_ENST00000345781.6_Silent_p.I599I	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	676					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCCAGCCTATCAGCTCCCTGC	0.567000													13	26					3.27435e-08	3.56365e-08	0.020292	1	0
EPOR	2057	broad.mit.edu	37	19	11488763	11488763	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:11488763C>T	ENST00000222139.6	-	8	1528	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	475						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CCCTTGGGCTCCCTGGGAGTC	0.592000											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	85					0	0	0.013726	0	0
CRAT	1384	broad.mit.edu	37	9	131870096	131870096	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:131870096G>C	ENST00000318080.2	-	2	582	c.288C>G	c.(286-288)aaC>aaG	p.N96K	CRAT_ENST00000393384.3_Missense_Mutation_p.N96K|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	96					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACTCACCCAGTTCTCCGTCT	0.637000													9	13					0	0	0.008291	0	0
KITLG	4254	broad.mit.edu	37	12	88900821	88900821	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:88900821C>G	ENST00000347404.5	-	6	1186	c.614G>C	c.(613-615)gGa>gCa	p.G205A	KITLG_ENST00000357116.4_Missense_Mutation_p.G16A|KITLG_ENST00000228280.5_Missense_Mutation_p.G233A|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	233					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GTATAAGGCTCCAAAAGCAAA	0.378000									Testicular Cancer, Familial Clustering of				5	40					0	0	0.001168	0	0
CUL1	8454	broad.mit.edu	37	7	148487405	148487405	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:148487405G>A	ENST00000325222.4	+	16	1957	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	CUL1_ENST00000409469.1_Missense_Mutation_p.E560K|CUL1_ENST00000602748.1_Missense_Mutation_p.E560K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	560					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TATCTAGTTGGAACGTAGTTA	0.428000													14	35					0	0	0.007413	0	0
ESRP2	80004	broad.mit.edu	37	16	68264333	68264333	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:68264333C>G	ENST00000473183.2	-	14	2561	c.2023G>C	c.(2023-2025)Gct>Cct	p.A675P	ESRP2_ENST00000565858.1_Missense_Mutation_p.A685P			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	685					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTCATACCAGCCGTGTATGGG	0.617000													24	55					0	0	0.014323	0	0
POLQ	10721	broad.mit.edu	37	3	121228970	121228970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:121228970G>A	ENST00000264233.5	-	11	1860	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	578					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTCCAAGCTGAACAGACTCT	0.428000								DNA polymerases (catalytic subunits)					23	62					0	0	0.012319	0	0
SHANK2	22941	broad.mit.edu	37	11	70319408	70319408	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:70319408G>A	ENST00000338508.4	-	33	5118	c.5119C>T	c.(5119-5121)Cgt>Tgt	p.R1707C	SHANK2_ENST00000449833.2_Missense_Mutation_p.R1111C|SHANK2_ENST00000423696.2_Missense_Mutation_p.R1327C|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1110C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1327					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTGGGGCACGTCTTGTTCCT	0.642000													5	46					0	0	0.014758	0	0
CHD4	1108	broad.mit.edu	37	12	6691413	6691413	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:6691413C>G	ENST00000309577.6	-	29	4652	c.4489G>C	c.(4489-4491)Gag>Cag	p.E1497Q	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Missense_Mutation_p.E1469Q|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544040.1_Missense_Mutation_p.E1462Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1494Q			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1469					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCCCCCGGCTCACATAAATGC	0.473000													10	54					0	0	0.008291	0	0
PKIG	11142	broad.mit.edu	37	20	43246949	43246949	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:43246949C>G	ENST00000372889.1	+	6	760	c.175C>G	c.(175-177)Cca>Gca	p.P59A	PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372892.3_Missense_Mutation_p.P59A|PKIG_ENST00000349959.3_Missense_Mutation_p.P59A|PKIG_ENST00000372891.3_Missense_Mutation_p.P59A|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372894.3_Missense_Mutation_p.P59A|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372886.1_Missense_Mutation_p.P59A	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	59							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			GGGAAGCGCCCCAGACAAGGA	0.547000													29	152					0	0	0.007291	0	0
USP24	23358	broad.mit.edu	37	1	55638085	55638085	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:55638085G>C	ENST00000294383.6	-	4	666	c.667C>G	c.(667-669)Cca>Gca	p.P223A	USP24_ENST00000407756.1_Missense_Mutation_p.P111A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	223					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTGGGAATTGGATCTTGTTTT	0.358000													4	13					0	0	0.014758	0	0
XIRP2	129446	broad.mit.edu	37	2	168114800	168114800	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:168114800G>A	ENST00000409728.1	+	11	1932	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E582K|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.E615K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E582K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E360K	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						ATCTCTGCTAGAAGATGTTAG	0.403000													22	51					0	0	0.014323	0	0
CSMD3	114788	broad.mit.edu	37	8	113358422	113358422	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:113358422A>G	ENST00000297405.5	-	41	6590	c.6346T>C	c.(6346-6348)Tca>Cca	p.S2116P	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2046P|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2012P|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2076P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2116	CUB 12.					integral to membrane|plasma membrane		p.S2116T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAAGTCTGACATAGCACCA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	43					0	0	0.004007	0	0
DIDO1	11083	broad.mit.edu	37	20	61511882	61511882	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61511882G>T	ENST00000266070.4	-	16	5751	c.5426C>A	c.(5425-5427)tCc>tAc	p.S1809Y	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1809Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1809	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGAGAATAAGGAAGGGATGGG	0.607000													20	97					1.22574e-08	1.33942e-08	0.014323	1	0
PDE6H	5149	broad.mit.edu	37	12	15131027	15131027	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:15131027G>T	ENST00000266395.2	+	2	187	c.81G>T	c.(79-81)aaG>aaT	p.K27N		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	27	Arg/Lys-rich (basic).				visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			endometrium(1)|lung(6)|ovary(1)|skin(2)	10						CCAAGTTCAAGCAGAGGCAGA	0.483000													7	21					2.0095e-06	2.13558e-06	0.001984	1	0
STIP1	10963	broad.mit.edu	37	11	63970354	63970354	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:63970354G>A	ENST00000358794.5	+	11	1946	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	STIP1_ENST00000305218.4_Missense_Mutation_p.E418K|STIP1_ENST00000538945.1_Missense_Mutation_p.E394K	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	418					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CTAGGACTGTGAGGAATGTAT	0.483000													23	68					0	0	0.018920	0	0
SLC14A2	8170	broad.mit.edu	37	18	43205653	43205653	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:43205653C>G	ENST00000255226.6	+	3	972	c.156C>G	c.(154-156)ctC>ctG	p.L52L	SLC14A2_ENST00000586448.1_Silent_p.L52L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	52						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAAGGATCTCCGGTCTTCCA	0.468000													10	20					0	0	0.010729	0	0
RER1	11079	broad.mit.edu	37	1	2327262	2327262	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:2327262C>T	ENST00000605895.1	+	2	166	c.33C>T	c.(31-33)gtC>gtT	p.V11V	RER1_ENST00000378513.3_Silent_p.V11V|RER1_ENST00000378518.1_Silent_p.V11V|RER1_ENST00000488353.1_Silent_p.V11V|RER1_ENST00000378512.1_Silent_p.V11V	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	11					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GAGAATCCGTCCATGGGAAAC	0.418000													8	37					0	0	0.004482	0	0
DNAH10	196385	broad.mit.edu	37	12	124345622	124345622	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:124345622C>T	ENST00000409039.3	+	38	6484	c.6459C>T	c.(6457-6459)taC>taT	p.Y2153Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2153	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAGAACTCTACGGCATCCTGG	0.493000													11	46					0	0	0.010729	0	0
AATF	26574	broad.mit.edu	37	17	35310257	35310257	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:35310257G>A	ENST00000225402.5	+	3	606	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	119	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GGAATATGATGAGGACGACCT	0.498000													12	49					0	0	0.013537	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777218	6777218	+	RNA	SNP	T	T	C	rs11974014	by1000genomes	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:6777218T>C	ENST00000486256.1	+	0	1345					NR_002217.1																						TGGACTGCCATTCAAACCAGG	0.473000													4	122					0	0	0.014758	0	0
MRPL10	124995	broad.mit.edu	37	17	45901691	45901691	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45901691G>C	ENST00000290208.7	-	5	1148	c.696C>G	c.(694-696)ctC>ctG	p.L232L	MRPL10_ENST00000414011.1_Silent_p.L232L|MRPL10_ENST00000351111.2_Silent_p.L222L			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	222					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCTGGTGCTGGAGCAGGGAGT	0.607000													13	42					0	0	0.020292	0	0
DIDO1	11083	broad.mit.edu	37	20	61511415	61511415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61511415G>A	ENST00000266070.4	-	16	6218	c.5893C>T	c.(5893-5895)Cag>Tag	p.Q1965*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1965*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1965	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGAACTGCTGAGGCTGAATG	0.577000													46	198					0	0	0.014410	0	0
STRC	161497	broad.mit.edu	37	15	43896298	43896298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:43896298C>T	ENST00000450892.2	-	22	4348	c.4271G>A	c.(4270-4272)tGg>tAg	p.W1424*	STRC_ENST00000541030.1_Nonsense_Mutation_p.W651*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1424					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCTGCTCCCAGCTCTGCTG	0.582000													8	27					0	0	0.008291	0	0
RP11-192H23.4	0	broad.mit.edu	37	17	26940312	26940312	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26940312C>G	ENST00000534850.1	-	3	407	c.376G>C	c.(376-378)Gat>Cat	p.D126H	SGK494_ENST00000301037.5_Missense_Mutation_p.D126H|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA																endometrium(2)|kidney(2)	4						TGGGTGCAATCTAGCACCTTG	0.458000											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	39					0	0	0.021523	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110029160	110029160	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:110029160G>A	ENST00000369870.3	+	3	241	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	76										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCTGCCCATGATGACTTCTA	0.542000													13	24					0	0	0.016723	0	0
ZNF121	7675	broad.mit.edu	37	19	9676748	9676748	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:9676748T>A	ENST00000586602.1	-	6	1457	c.1041A>T	c.(1039-1041)aaA>aaT	p.K347N	ZNF121_ENST00000320451.6_Missense_Mutation_p.K347N			P58317	ZN121_HUMAN	zinc finger protein 121	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CACGGAAGGTTTTCCCACATT	0.388000													16	36					0	0	0.004007	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033451	37033451	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:37033451G>C	ENST00000322716.5	-	1	1344	c.1118C>G	c.(1117-1119)tCa>tGa	p.S373*		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	373						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TTGTTTGTCTGAGAAGTGGAC	0.398000													54	124					0	0	0.014410	0	0
DOCK3	1795	broad.mit.edu	37	3	51317569	51317569	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:51317569C>T	ENST00000266037.9	+	27	2879	c.2856C>T	c.(2854-2856)ctC>ctT	p.L952L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	952						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTCACTGCTCCGCCAGATGT	0.517000													3	25					0	0	0.009096	0	0
DNAH1	25981	broad.mit.edu	37	3	52398976	52398976	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:52398976G>A	ENST00000420323.2	+	34	5720	c.5459G>A	c.(5458-5460)gGc>gAc	p.G1820D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1820					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)		ACGGACTACGGCATCCTGGAT	0.607000													14	63					0	0	0.004007	0	0
POFUT1	23509	broad.mit.edu	37	20	30804435	30804435	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:30804435C>T	ENST00000375749.3	+	4	515	c.453C>T	c.(451-453)ttC>ttT	p.F151F	POFUT1_ENST00000375730.3_Silent_p.F151F|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	151					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	p.F151F(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGGCCCATTCTGGGATCAGT	0.507000													18	71					0	0	0.010504	0	0
NBPF3	84224	broad.mit.edu	37	1	21804591	21804591	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:21804591C>G	ENST00000342104.5	+	9	1346	c.1022C>G	c.(1021-1023)tCt>tGt	p.S341C	NBPF3_ENST00000318249.5_Intron|NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318220.6_Intron	NM_001256416.1	NP_001243345.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	330	NBPF 2.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGTCTAATCTCTGTTGGTTAT	0.468000													27	59					0	0	0.005443	0	0
TAOK2	9344	broad.mit.edu	37	16	29998793	29998793	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:29998793G>A	ENST00000308893.4	+	16	4243	c.3200G>A	c.(3199-3201)gGc>gAc	p.G1067D	TAOK2_ENST00000416441.2_Missense_Mutation_p.G894D|TAOK2_ENST00000543033.1_Missense_Mutation_p.G954D|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1067					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGCGGGGGGCAGATGGGTG	0.692000													6	31					0	0	0.003080	0	0
C2orf43	60526	broad.mit.edu	37	2	20901369	20901369	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:20901369C>T	ENST00000237822.3	-	6	826	c.747G>A	c.(745-747)gtG>gtA	p.V249V	C2orf43_ENST00000435420.2_Silent_p.V201V|C2orf43_ENST00000541941.1_Silent_p.V119V|C2orf43_ENST00000440866.2_3'UTR|C2orf43_ENST00000403006.2_Silent_p.V119V|C2orf43_ENST00000381090.3_Silent_p.V249V	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	249										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTCTCTTCACCACCTCCA	0.373000													41	127					0	0	0.011902	0	0
TFG	10342	broad.mit.edu	37	3	100467340	100467340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:100467340C>T	ENST00000240851.4	+	8	1508	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	TFG_ENST00000490574.1_Nonsense_Mutation_p.Q390*|TFG_ENST00000476228.1_Nonsense_Mutation_p.Q386*|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Nonsense_Mutation_p.Q386*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	390					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						TCCCTTTGGTCAGGGCTATAC	0.498000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								11	48					0	0	0.013537	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187713754	187713754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:187713754C>G	ENST00000295131.2	-	1	143	c.104G>C	c.(103-105)cGa>cCa	p.R35P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	35					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GCCCATCTCTCGTAGGAGGTA	0.597000													10	25					0	0	0.006214	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122075	18122075	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:18122075C>T	ENST00000340650.3	-	1	776	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	255					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TGCAACCTTTCAGTTCTCCGA	0.632000													9	23					0	0	0.006214	0	0
PLCH1	23007	broad.mit.edu	37	3	155199036	155199036	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:155199036C>T	ENST00000460012.1	-	23	5046	c.4689G>A	c.(4687-4689)aaG>aaA	p.K1563K	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.K1601K|PLCH1_ENST00000414191.1_Silent_p.K1563K|PLCH1_ENST00000334686.6_Silent_p.K1563K|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1601					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAACTTTCTGCTTGTTGGCTT	0.547000													28	52					0	0	0.004656	0	0
CES1P1	51716	broad.mit.edu	37	16	55794533	55794533	+	RNA	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:55794533C>G	ENST00000571348.1	+	0	23					NR_003276.2																						CGCAGGCCCCCGGAACTGTCG	0.637000													7	6					0	0	0.003080	0	0
STON2	85439	broad.mit.edu	37	14	81744349	81744349	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:81744349C>T	ENST00000555447.1	-	6	1718	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	STON2_ENST00000267540.2_Missense_Mutation_p.E436K	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	436	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTTTTCTTCTCAGGGATCCTC	0.527000													50	110					0	0	0.014410	0	0
KIAA0100	9703	broad.mit.edu	37	17	26945827	26945827	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26945827C>G	ENST00000528896.2	-	32	5879	c.5805G>C	c.(5803-5805)caG>caC	p.Q1935H	KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q1792H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q1792H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1935						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGAGGAACCTCTGCAGTTCTA	0.478000													24	56					0	0	0.005443	0	0
TNXB	7148	broad.mit.edu	37	6	32014154	32014154	+	Silent	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:32014154G>T	ENST00000375244.3	-	31	10605	c.10404C>A	c.(10402-10404)tcC>tcA	p.S3468S	TNXB_ENST00000375247.2_Silent_p.S3466S			P22105	TENX_HUMAN	tenascin XB	3513	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTACCGTCCAGGACAGGCGCA	0.667000													16	23					4.7546e-09	5.21659e-09	0.004007	1	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138711457	138711457	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:138711457G>A	ENST00000275766.1	-	4	894	c.883C>T	c.(883-885)Cca>Tca	p.P295S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	295										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GGTTTACCTGGGCAGGGCTTC	0.502000													5	93					0	0	0.014758	0	0
ASL	435	broad.mit.edu	37	7	65553815	65553815	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:65553815C>T	ENST00000304874.9	+	11	842	c.740C>T	c.(739-741)tCg>tTg	p.S247L	ASL_ENST00000395332.3_Missense_Mutation_p.S247L|ASL_ENST00000380839.4_Missense_Mutation_p.S221L|AC068533.7_ENST00000450043.1_Silent_p.F15F|ASL_ENST00000395331.3_Missense_Mutation_p.S247L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	247					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TTCTGGGCTTCGCTGTGCATG	0.587000													8	34					0	0	0.004482	0	0
CLIP2	7461	broad.mit.edu	37	7	73771712	73771712	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:73771712G>A	ENST00000223398.6	+	6	1447	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	CLIP2_ENST00000395060.1_Missense_Mutation_p.E374K|CLIP2_ENST00000361545.5_Missense_Mutation_p.E374K	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	374						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCTGCTGGCTGAACGAGACCT	0.612000													6	9					0	0	0.001984	0	0
PKHD1	5314	broad.mit.edu	37	6	51768474	51768474	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:51768474G>A	ENST00000371117.3	-	43	7192	c.6917C>T	c.(6916-6918)tCt>tTt	p.S2306F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2306F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2306					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCGGCACCAGAAACCTGGAT	0.413000													23	67					0	0	0.016522	0	0
SMC1A	8243	broad.mit.edu	37	X	53436094	53436094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:53436094C>A	ENST00000322213.4	-	9	1571	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	SMC1A_ENST00000375340.6_Nonsense_Mutation_p.E248*	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	482					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCTAGCTGCTCCATCACCTGG	0.562000													13	37					2.27111e-07	2.45208e-07	0.013537	1	0
CACNB1	782	broad.mit.edu	37	17	37343111	37343111	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:37343111G>A	ENST00000394303.3	-	5	693	c.486C>T	c.(484-486)ccC>ccT	p.P162P	CACNB1_ENST00000344140.5_Silent_p.P162P|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Silent_p.P162P	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	162					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCAGTTTGACGGGGCTGGGAA	0.592000													22	40					0	0	0.014323	0	0
GOT1L1	137362	broad.mit.edu	37	8	37791899	37791899	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:37791899T>A	ENST00000307599.4	-	9	1277	c.1178A>T	c.(1177-1179)gAg>gTg	p.E393V		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	393					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATTGATGCCCTCAGTGATGTA	0.408000													42	86					0	0	0.009718	0	0
SLC12A3	6559	broad.mit.edu	37	16	56901090	56901090	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:56901090G>A	ENST00000438926.2	+	2	420	c.391G>A	c.(391-393)Gag>Aag	p.E131K	SLC12A3_ENST00000563236.1_Missense_Mutation_p.E131K|SLC12A3_ENST00000262502.5_Missense_Mutation_p.E130K|SLC12A3_ENST00000566786.1_Missense_Mutation_p.E130K	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	131					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GAAGAACCCCGAGGAGCCAGT	0.652000													3	8					0	0	0.004672	0	0
KIAA0100	9703	broad.mit.edu	37	17	26942717	26942717	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26942717C>T	ENST00000528896.2	-	38	6564	c.6490G>A	c.(6490-6492)Gtc>Atc	p.V2164I	SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.V2021I|KIAA0100_ENST00000544884.1_Missense_Mutation_p.V2021I|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2164						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCCCTTTTGACAGCCATGGCA	0.567000													13	34					0	0	0.013537	0	0
SCAND3	114821	broad.mit.edu	37	6	28542657	28542657	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:28542657C>G	ENST00000452236.2	-	3	2442	c.1825G>C	c.(1825-1827)Gaa>Caa	p.E609Q		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	609					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCTGTGCATTCTTTTTCACAA	0.413000													10	18					0	0	0.006214	0	0
PARD6A	50855	broad.mit.edu	37	16	67696467	67696467	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:67696467C>T	ENST00000458121.2	+	3	1046	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	PARD6A_ENST00000602551.1_Silent_p.L290L|PARD6A_ENST00000219255.3_Silent_p.L320L	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	320					cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGCTCTCTGCCCTCCCT	0.637000													9	19					0	0	0.010729	0	0
GALNT15	117248	broad.mit.edu	37	3	16254202	16254202	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:16254202G>A	ENST00000339732.5	+	6	1827	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	GALNT15_ENST00000437509.1_Missense_Mutation_p.E442K	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TCGCATTGCTGAGACCTGGCT	0.547000													13	52					0	0	0.003163	0	0
ACTL6A	86	broad.mit.edu	37	3	179294032	179294032	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:179294032G>A	ENST00000429709.2	+	6	717	c.504G>A	c.(502-504)ctG>ctA	p.L168L	ACTL6A_ENST00000392662.1_Silent_p.L126L|ACTL6A_ENST00000450518.2_Silent_p.L126L|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	168					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CTACTGGGCTGATTTTGGACA	0.398000													13	26					0	0	0.004007	0	0
FZD9	8326	broad.mit.edu	37	7	72849364	72849364	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:72849364G>A	ENST00000344575.3	+	1	1256	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	343					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCTGGCTGCCGGGAAGAAATG	0.637000													10	47					0	0	0.006214	0	0
FER	2241	broad.mit.edu	37	5	108290634	108290634	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:108290634G>A	ENST00000281092.4	+	12	1917		c.e12+1		FER_ENST00000438717.2_Splice_Site|FER_ENST00000536402.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ATATGTTGATGTACGTTTCCA	0.343000													24	48					0	0	0.021523	0	0
LRP1B	53353	broad.mit.edu	37	2	141283479	141283479	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:141283479G>T	ENST00000389484.3	-	49	8931	c.7960C>A	c.(7960-7962)Ctg>Atg	p.L2654M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2654	LDL-receptor class A 14.			LP -> CQ (in Ref. 2; AAL38108).	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)		CAGGTTGGCAGAACACACAGT	0.403000										TSP Lung(27;0.18)			12	37					3.07112e-06	3.25107e-06	0.010729	1	0
SH3TC1	54436	broad.mit.edu	37	4	8214432	8214432	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:8214432G>C	ENST00000539824.1	+	4	398	c.24G>C	c.(22-24)ctG>ctC	p.L8L	SH3TC1_ENST00000245105.3_Silent_p.L84L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	84							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCCAGACCTGACCCTGCAGC	0.662000													7	23					0	0	0.001984	0	0
OR1N2	138882	broad.mit.edu	37	9	125316096	125316096	+	Silent	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:125316096C>A	ENST00000373688.2	+	1	706	c.648C>A	c.(646-648)atC>atA	p.I216I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGCTGATGATCATCACCATGG	0.502000													32	63					4.67007e-22	5.2514e-22	0.008740	1	0
MOGAT2	80168	broad.mit.edu	37	11	75442218	75442218	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:75442218G>A	ENST00000526712.1	+	5	1419	c.646G>A	c.(646-648)Gag>Aag	p.E216K	MOGAT2_ENST00000198801.5_Missense_Mutation_p.E298K			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	298					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GCATCCCTCGGAGGAGGAGGT	0.567000													18	39					0	0	0.004990	0	0
DIAPH1	1729	broad.mit.edu	37	5	140960344	140960344	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:140960344G>C	ENST00000253811.6	-	8	931	c.791C>G	c.(790-792)tCt>tGt	p.S264C	DIAPH1_ENST00000398557.4_Missense_Mutation_p.S264C|DIAPH1_ENST00000518047.1_Missense_Mutation_p.S255C|DIAPH1_ENST00000398566.3_Missense_Mutation_p.S255C|DIAPH1_ENST00000389054.3_Missense_Mutation_p.S264C|DIAPH1_ENST00000398562.2_Missense_Mutation_p.S255C|DIAPH1_ENST00000520569.1_Missense_Mutation_p.S210C|DIAPH1_ENST00000389057.5_Missense_Mutation_p.S255C			O60610	DIAP1_HUMAN	diaphanous-related formin 1	264	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAAGAGCAGAAAGCAGCTT	0.418000													15	55					0	0	0.003163	0	0
RTP1	132112	broad.mit.edu	37	3	186917517	186917517	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:186917517G>A	ENST00000312295.4	+	2	481	c.451G>A	c.(451-453)Gag>Aag	p.E151K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	151					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGAGAACATCGAGGGCCTGGT	0.682000													5	31					0	0	0.014758	0	0
KPNB1	3837	broad.mit.edu	37	17	45727754	45727754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45727754C>G	ENST00000290158.4	+	2	450	c.43C>G	c.(43-45)Cgg>Ggg	p.R15G	KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000535458.2_Intron	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	15					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						CCCCCTAGATCGGCTGGAGCT	0.721000													4	12					0	0	0.009096	0	0
TUBAL3	79861	broad.mit.edu	37	10	5437320	5437320	+	Silent	SNP	G	G	A	rs144348755		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:5437320G>A	ENST00000380419.3	-	3	403	c.366C>T	c.(364-366)atC>atT	p.I122I	TUBAL3_ENST00000479328.1_Silent_p.I82I	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	122					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.I122I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCACAAGGTCGATGACCTCCG	0.622000													42	67					0	0	0.009718	0	0
SNX21	90203	broad.mit.edu	37	20	44469809	44469809	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:44469809G>C	ENST00000372542.1	+	3	1264	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	SNX21_ENST00000491381.1_Missense_Mutation_p.E327Q|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron			Q969T3	SNX21_HUMAN	sorting nexin family member 21	327					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				ACCCTTTCTGGAGGCCCATGT	0.657000													32	46					0	0	0.010818	0	0
NCOA1	8648	broad.mit.edu	37	2	24930108	24930108	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:24930108C>G	ENST00000405141.1	+	14	2480	c.1769C>G	c.(1768-1770)tCa>tGa	p.S590*	NCOA1_ENST00000395856.3_Nonsense_Mutation_p.S590*|NCOA1_ENST00000348332.3_Nonsense_Mutation_p.S590*|NCOA1_ENST00000407230.1_Nonsense_Mutation_p.S439*|NCOA1_ENST00000288599.5_Nonsense_Mutation_p.S590*|NCOA1_ENST00000538539.1_Nonsense_Mutation_p.S590*|NCOA1_ENST00000406961.1_Nonsense_Mutation_p.S590*			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	590	Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATTGCCTCAATTTTAAAT	0.408000			T	PAX3	alveolar rhadomyosarcoma								7	46					0	0	0.003080	0	0
RP11-192H23.4	0	broad.mit.edu	37	17	26940461	26940461	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26940461C>T	ENST00000534850.1	-	2	352	c.321G>A	c.(319-321)ctG>ctA	p.L107L	SGK494_ENST00000301037.5_Silent_p.L107L|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_Silent_p.L106L|SPAG5-AS1_ENST00000554154.1_RNA																endometrium(2)|kidney(2)	4						GACTTACCTTCAGCTGCTGCT	0.502000											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	41					0	0	0.016522	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													5	30					0	0	0.014758	0	0
MYBPC1	4604	broad.mit.edu	37	12	102060550	102060550	+	Silent	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:102060550T>C	ENST00000549145.1	+	22	2449	c.2349T>C	c.(2347-2349)aaT>aaC	p.N783N	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.N770N|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000361466.2_Intron|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000452455.2_Silent_p.N770N|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000551300.1_Intron|MYBPC1_ENST00000441232.1_Silent_p.N770N|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000361685.2_Intron|MYBPC1_ENST00000360610.2_Silent_p.N770N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	770	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTGATGAAAATGGGGAGGCTG	0.368000													12	59					0	0	0.013537	0	0
LAMA3	3909	broad.mit.edu	37	18	21395492	21395492	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:21395492G>C	ENST00000313654.9	+	17	2243	c.2002G>C	c.(2002-2004)Gat>Cat	p.D668H	LAMA3_ENST00000399516.3_Missense_Mutation_p.D668H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	668	Domain V.|Laminin EGF-like 7.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTGTGAAGATGGATATTT	0.453000													9	36					0	0	0.004482	0	0
CSMD1	64478	broad.mit.edu	37	8	3000065	3000065	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:3000065T>C	ENST00000520002.1	-	42	6721	c.6166A>G	c.(6166-6168)Agc>Ggc	p.S2056G	CSMD1_ENST00000542608.1_Missense_Mutation_p.S2055G|CSMD1_ENST00000539096.1_Missense_Mutation_p.S2055G|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2055G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2056G|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2056G|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2056G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2056	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCGTTGTGCTCAGCAGGGCC	0.478000													6	36					0	0	0.001168	0	0
PHF8	23133	broad.mit.edu	37	X	54022189	54022189	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:54022189G>A	ENST00000338154.6	-	12	1764	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	PHF8_ENST00000322659.8_Silent_p.I420I|PHF8_ENST00000357988.5_Silent_p.I456I|PHF8_ENST00000338946.6_Silent_p.I420I	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	456					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTGTCTCCGGGATCTCATCCT	0.498000													7	20					0	0	0.001984	0	0
FREM2	341640	broad.mit.edu	37	13	39263186	39263186	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr13:39263186C>A	ENST00000280481.7	+	1	1921	c.1705C>A	c.(1705-1707)Ctg>Atg	p.L569M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	569					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAACACGGGGCTGACACTGGC	0.547000													9	24					3.09899e-07	3.33264e-07	0.004482	1	0
DEPDC5	9681	broad.mit.edu	37	22	32174116	32174116	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr22:32174116G>A	ENST00000400246.1	+	8	587	c.445G>A	c.(445-447)Gag>Aag	p.E149K	DEPDC5_ENST00000400248.2_Missense_Mutation_p.E149K|DEPDC5_ENST00000536766.1_Missense_Mutation_p.E121K|DEPDC5_ENST00000400242.3_Missense_Mutation_p.E149K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E149K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E149K|DEPDC5_ENST00000382112.3_Missense_Mutation_p.E149K|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E149K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E149K|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E149K			O75140	DEPD5_HUMAN	DEP domain containing 5	149					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGTTAAGAATGAGAAGGTCAT	0.383000													30	65					0	0	0.010818	0	0
ACTL6A	86	broad.mit.edu	37	3	179294656	179294656	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:179294656G>C	ENST00000429709.2	+	8	936	c.723G>C	c.(721-723)gaG>gaC	p.E241D	ACTL6A_ENST00000392662.1_Missense_Mutation_p.E199D|ACTL6A_ENST00000450518.2_Missense_Mutation_p.E199D|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	241					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAAGAAAAGAGAAGTTGCCTC	0.418000													28	54					0	0	0.006320	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840585	840585	+	Missense_Mutation	SNP	C	C	T	rs138234809	by1000genomes	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:840585C>T	ENST00000511539.1	-	2	274	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000424784.2_Intron			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	0						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TTGGGGGGATCGGGGGCTTAG	0.597000													6	77					0	0	0.008291	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40235658	40235658	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:40235658A>G	ENST00000263791.5	+	3	375	c.332A>G	c.(331-333)gAa>gGa	p.E111G	EIF2AK4_ENST00000560648.1_Missense_Mutation_p.E111G|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E111G|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E111G	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	111	RWD.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCTCGCCTAGAAGAACTGGCC	0.338000													15	42					0	0	0.004007	0	0
ACAP3	116983	broad.mit.edu	37	1	1233261	1233261	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:1233261C>T	ENST00000354700.5	-	14	1271	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.A315T	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	357	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCCTGCACAGCCTGGACCCAG	0.687000													18	22					0	0	0.007413	0	0
GLI3	2737	broad.mit.edu	37	7	42005908	42005908	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:42005908G>A	ENST00000395925.3	-	15	2847	c.2763C>T	c.(2761-2763)ctC>ctT	p.L921L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	921					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGCGGGCGTGAGGCTGAGCA	0.701000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	23					0	0	0.006214	0	0
GLUD2	2747	broad.mit.edu	37	X	120181754	120181754	+	Silent	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:120181754C>A	ENST00000328078.1	+	1	293	c.216C>A	c.(214-216)ggC>ggA	p.G72G		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	72					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGGTGGAGGGCTTCTTCGATC	0.667000													22	57					1.17739e-12	1.31306e-12	0.005443	1	0
EMILIN3	90187	broad.mit.edu	37	20	39990047	39990047	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:39990047C>A	ENST00000332312.3	-	4	2354	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						proteinaceous extracellular matrix		p.R721K(1)|p.R721I(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGGCCCTCTCTGGGCCTCAG	0.672000													14	15					4.3838e-07	4.69569e-07	0.016723	1	0
SYNE2	23224	broad.mit.edu	37	14	64625483	64625483	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:64625483G>A	ENST00000357395.3	+	87	16232	c.5088G>A	c.(5086-5088)gaG>gaA	p.E1696E	SYNE2_ENST00000394768.2_Silent_p.E1696E|SYNE2_ENST00000344113.4_Silent_p.E5311E|SYNE2_ENST00000554584.1_Silent_p.E5228E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.E1945E|SYNE2_ENST00000358025.3_Silent_p.E5311E			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5311					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATCATTGGAGACCTTGAGAT	0.433000													12	25					0	0	0.016723	0	0
TTN	7273	broad.mit.edu	37	2	179464145	179464145	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:179464145A>T	ENST00000589042.1	-	290	56599	c.56375T>A	c.(56374-56376)aTa>aAa	p.I18792K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I9919K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9852K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16224K|TTN_ENST00000591111.1_Missense_Mutation_p.I17151K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I9727K|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17151	Fibronectin type-III 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAATTTTATGGGTCCCAC	0.363000													13	35					0	0	0.013537	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123292290	123292290	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:123292290G>A	ENST00000349780.4	-	8	970	c.791C>T	c.(790-792)gCt>gTt	p.A264V	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A264V|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A264V|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.A264V	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	264					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCTTGGAGCAGCACAAAGTCC	0.473000													3	55					0	0	0.009096	0	0
POTEA	340441	broad.mit.edu	37	8	43197470	43197470	+	RNA	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:43197470C>T	ENST00000522175.2	+	0	1223							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATTTTAACGGTAGGACCA	0.373000													21	35					0	0	0.004656	0	0
PANX3	116337	broad.mit.edu	37	11	124482880	124482880	+	Silent	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:124482880T>C	ENST00000284288.2	+	2	253	c.186T>C	c.(184-186)tcT>tcC	p.S62S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	62					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTGCAGGGTCTCCGATCAGCT	0.572000													15	41					0	0	0.003163	0	0
SPATA2	9825	broad.mit.edu	37	20	48522407	48522407	+	Nonsense_Mutation	SNP	G	G	A	rs145093250		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:48522407G>A	ENST00000422556.1	-	3	1661	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	SPATA2_ENST00000289431.5_Nonsense_Mutation_p.Q438*|SPATA2_ENST00000543716.1_Nonsense_Mutation_p.Q301*	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	438					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCGAGGCCCTGAGTCTGGCCT	0.662000													14	52					0	0	0.016723	0	0
AP2B1	163	broad.mit.edu	37	17	33966732	33966732	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:33966732G>A	ENST00000262325.7	+	11	1943	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	AP2B1_ENST00000312678.8_Missense_Mutation_p.E464K|AP2B1_ENST00000592545.1_Missense_Mutation_p.E426K|AP2B1_ENST00000538556.1_Missense_Mutation_p.E407K|AP2B1_ENST00000537622.2_Missense_Mutation_p.E464K|AP2B1_ENST00000589344.1_Missense_Mutation_p.E464K|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	464					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAATGCAGATGAGTTACTAGA	0.438000													16	50					0	0	0.004007	0	0
ANO4	121601	broad.mit.edu	37	12	101510519	101510519	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:101510519G>C	ENST00000392979.3	+	24	2769	c.2408G>C	c.(2407-2409)cGa>cCa	p.R803P	ANO4_ENST00000550015.1_Missense_Mutation_p.R358P|ANO4_ENST00000299222.9_Missense_Mutation_p.R358P|ANO4_ENST00000392977.3_Missense_Mutation_p.R838P	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	838						chloride channel complex	chloride channel activity	p.R803Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTGAGAACCGATCTGAGCCT	0.507000										HNSCC(74;0.22)			29	87					0	0	0.007291	0	0
UBOX5	22888	broad.mit.edu	37	20	3102035	3102035	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:3102035G>A	ENST00000217173.2	-	3	1721	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L	UBOX5_ENST00000348031.2_Missense_Mutation_p.S417L|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	417						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						ATTACCTGTCGAGCAGTCCAT	0.527000													6	43					0	0	0.001168	0	0
NKTR	4820	broad.mit.edu	37	3	42680225	42680225	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:42680225G>A	ENST00000232978.8	+	13	3217	c.3029G>A	c.(3028-3030)cGa>cAa	p.R1010Q	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1010	Arg/Lys-rich (basic).				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCTCCAAAACGAAAGCAAGCA	0.383000													10	42					0	0	0.010729	0	0
XRCC3	7517	broad.mit.edu	37	14	104177481	104177481	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:104177481G>C	ENST00000553264.1	-	0	740				XRCC3_ENST00000555055.1_De_novo_Start_OutOfFrame|XRCC3_ENST00000445556.1_De_novo_Start_OutOfFrame|XRCC3_ENST00000352127.7_De_novo_Start_OutOfFrame|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000554913.1_De_novo_Start_OutOfFrame			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3						DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CAGAACAATGGATGCAAATTC	0.527000								Direct reversal of damage;Homologous recombination					5	9					0	0	0.014758	0	0
SCAF8	22828	broad.mit.edu	37	6	155153393	155153393	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:155153393C>G	ENST00000367178.3	+	20	3256	c.2680C>G	c.(2680-2682)Cct>Gct	p.P894A	SCAF8_ENST00000367186.4_Missense_Mutation_p.P960A|SCAF8_ENST00000417268.1_Missense_Mutation_p.P894A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	894	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCCAAATACTCCTGGACTTCT	0.453000													34	47					0	0	0.013726	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204373	10204373	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:10204373T>C	ENST00000253109.4	-	4	1185	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	ANGPTL6_ENST00000589181.1_Intron|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.Y316C	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	316	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	p.Y316C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GCCCACCTTATAGTGCTGCCA	0.607000													12	57					0	0	0.010729	0	0
MTHFR	4524	broad.mit.edu	37	1	11854051	11854051	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:11854051G>A	ENST00000376592.1	-	8	1571	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	MTHFR_ENST00000376585.1_Silent_p.T522T|MTHFR_ENST00000376583.3_Silent_p.T522T|MTHFR_ENST00000376590.3_Silent_p.T481T			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	481					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GTGAGTTGATGGTGAGGATGC	0.652000													26	61					0	0	0.007291	0	0
SGPP2	130367	broad.mit.edu	37	2	223423425	223423425	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:223423425C>G	ENST00000321276.7	+	5	1094	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	336					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGTTGATCCTCTTGGTTCGTC	0.473000													14	52					0	0	0.020292	0	0
ZNF688	146542	broad.mit.edu	37	16	30583534	30583534	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:30583534G>A	ENST00000395219.1	-	1	194	c.63C>T	c.(61-63)ttC>ttT	p.F21F	ZNF688_ENST00000223459.6_5'UTR	NM_001024683.1	NP_001019854.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CGGGGCATTTGAAGGGACCCC	0.617000													15	34					0	0	0.004007	0	0
MYLK	4638	broad.mit.edu	37	3	123348340	123348340	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:123348340G>A	ENST00000360304.3	-	30	5376	c.5095C>T	c.(5095-5097)Ctg>Ttg	p.L1699L	MYLK_ENST00000346322.5_Silent_p.L1630L|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Silent_p.L499L|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000475616.1_Silent_p.L1699L|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000470449.1_RNA	NM_053025.3	NP_444253.3	Q15746	MYLK_HUMAN	myosin light chain kinase	1699	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCTTCAGCAGATTGCTGATG	0.498000													10	32					0	0	0.010729	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432632	140432632	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:140432632A>G	ENST00000306549.3	+	1	1654	c.1577A>G	c.(1576-1578)cAa>cGa	p.Q526R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		526	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCCATTCAAGATTTTCAA	0.438000													12	39					0	0	0.010729	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564970	58564970	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:58564970C>T	ENST00000282326.1	+	6	1025	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	260					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGAGCGGCCGCCACCAGCC	0.627000													6	39					0	0	0.001168	0	0
ITGA2B	3674	broad.mit.edu	37	17	42463435	42463435	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:42463435A>G	ENST00000262407.5	-	2	284	c.253T>C	c.(253-255)Ttc>Ctc	p.F85L	ITGA2B_ENST00000353281.4_Missense_Mutation_p.F85L	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	85					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGGCACAGGAACACGCCGCCC	0.697000													3	10					0	0	0.004672	0	0
TP53I13	90313	broad.mit.edu	37	17	27895814	27895814	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:27895814T>C	ENST00000301057.7	+	1	153	c.38T>C	c.(37-39)cTg>cCg	p.L13P	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	13						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CTGCTTCTCCTGGCAGCCCTC	0.731000													13	18					0	0	0.020292	0	0
MAP4	4134	broad.mit.edu	37	3	47951269	47951269	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:47951269C>T	ENST00000426837.2	-	10	4780	c.4693G>A	c.(4693-4695)Gtg>Atg	p.V1565M	MAP4_ENST00000395734.3_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.V155M|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	935					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCTCCTATCACATGCCCTTCA	0.448000													13	39					0	0	0.016723	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2																						AGGGCACATGCCTGACCAGAC	0.572000													5	35					0	0	0.001984	0	0
C19orf44	84167	broad.mit.edu	37	19	16614092	16614092	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:16614092T>G	ENST00000221671.3	+	3	1132	c.976T>G	c.(976-978)Tta>Gta	p.L326V	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.L326V	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	326										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTCAGTGTCTTTAAAGATGGG	0.562000													21	54					0	0	0.010504	0	0
LAMA3	3909	broad.mit.edu	37	18	21396406	21396406	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:21396406G>T	ENST00000313654.9	+	18	2343	c.2102G>T	c.(2101-2103)gGa>gTa	p.G701V	LAMA3_ENST00000399516.3_Missense_Mutation_p.G701V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	701	Domain V.|Laminin EGF-like 8.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCCCTCGGGAGTGTGCCAG	0.552000													10	28					2.68362e-12	2.96841e-12	0.013537	1	0
C3orf62	375341	broad.mit.edu	37	3	49308828	49308828	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:49308828C>G	ENST00000343010.3	-	3	1625	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	197										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AATTCGTTTTCAAATTCTATT	0.423000													11	55					0	0	0.008291	0	0
LEF1	51176	broad.mit.edu	37	4	109084785	109084785	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:109084785G>C	ENST00000379951.2	-	3	1541	c.353C>G	c.(352-354)cCa>cGa	p.P118R	LEF1_ENST00000510624.1_Missense_Mutation_p.P50R|LEF1_ENST00000265165.1_Missense_Mutation_p.P118R|LEF1_ENST00000512172.1_Missense_Mutation_p.P50R|LEF1_ENST00000438313.2_Missense_Mutation_p.P118R	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	118	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ATTCATATTTGGCATCATTAT	0.428000													22	70					0	0	0.012319	0	0
CAPN9	10753	broad.mit.edu	37	1	230903408	230903408	+	Silent	SNP	C	C	T	rs147002278		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:230903408C>T	ENST00000354537.1	+	5	740	c.658C>T	c.(658-660)Cta>Tta	p.L220L	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Silent_p.L220L|CAPN9_ENST00000366666.2_Silent_p.L157L	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	220	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTATGAGATTCTAGAGAAGGC	0.547000													15	65					0	0	0.004007	0	0
PLCH1	23007	broad.mit.edu	37	3	155199541	155199541	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:155199541G>C	ENST00000460012.1	-	23	4541	c.4184C>G	c.(4183-4185)tCt>tGt	p.S1395C	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1433C|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1395C|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1395C|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1433					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCTAGATAAGAAATACTTTG	0.413000													28	46					0	0	0.004656	0	0
RABEPK	10244	broad.mit.edu	37	9	127996215	127996215	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:127996215G>A	ENST00000373538.3	+	8	1385	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.E308K|RABEPK_ENST00000394125.4_Missense_Mutation_p.E359K	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	359					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GATGAATACAGAAGGGGAAAT	0.398000													36	86					0	0	0.007835	0	0
CR1L	1379	broad.mit.edu	37	1	207850763	207850763	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:207850763T>A	ENST00000508064.2	+	2	187	c.127T>A	c.(127-129)Ttt>Att	p.F43I	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	43	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGGCTTCCATTTGCCAGGCC	0.413000													8	61					0	0	0.004482	0	0
ZNF266	10781	broad.mit.edu	37	19	9528554	9528554	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:9528554G>A	ENST00000592904.1	-	3	2141	c.65C>T	c.(64-66)tCt>tTt	p.S22F	ZNF266_ENST00000361151.1_Missense_Mutation_p.S22F|ZNF266_ENST00000361451.2_Missense_Mutation_p.S22F|ZNF266_ENST00000588221.1_Missense_Mutation_p.S22F|ZNF266_ENST00000592292.1_Missense_Mutation_p.S22F|ZNF266_ENST00000588933.1_Missense_Mutation_p.S22F|ZNF266_ENST00000590306.1_Missense_Mutation_p.S22F			Q14584	ZN266_HUMAN	zinc finger protein 266	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTCCAGCCAAGAGATCAGACT	0.433000													44	89					0	0	0.011902	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219057	1219057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:1219057G>A	ENST00000304460.10	+	9	1269	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	405					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTCTTCACCGAGGCCATCAC	0.607000													19	36					0	0	0.008871	0	0
MAP4K1	11184	broad.mit.edu	37	19	39106878	39106878	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:39106878G>A	ENST00000591517.1	-	4	298	c.270C>T	c.(268-270)tgC>tgT	p.C90C	MAP4K1_ENST00000396857.2_Silent_p.C90C|MAP4K1_ENST00000589130.1_Silent_p.C86C|MAP4K1_ENST00000586296.1_Silent_p.C90C	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	90	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAATTCCATGCAGATCCAGA	0.488000													10	24					0	0	0.008291	0	0
CDK12	51755	broad.mit.edu	37	17	37618889	37618889	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:37618889G>A	ENST00000447079.4	+	1	598	c.565G>A	c.(565-567)Gag>Aag	p.E189K	CDK12_ENST00000430627.2_Missense_Mutation_p.E189K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	189					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAAAGAACGGGAGCTGAAGTC	0.502000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			8	28					0	0	0.004482	0	0
PLCB3	5331	broad.mit.edu	37	11	64022383	64022383	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:64022383G>A	ENST00000540288.1	+	4	363	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.R87Q	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	87					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCAAGATCCGGGAAGTTCTG	0.607000													3	29					0	0	0.004672	0	0
RBBP6	5930	broad.mit.edu	37	16	24578570	24578570	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:24578570C>T	ENST00000319715.4	+	15	2128	c.1696C>T	c.(1696-1698)Ccg>Tcg	p.P566S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P566S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	566					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		tcctttgtatccgcctcctcc	0.567000													21	84					0	0	0.008871	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45126542	45126542	+	RNA	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45126542G>A	ENST00000575173.1	-	0	418																											CATCTTTCATGAGCAAAGCAG	0.458000													17	38					0	0	0.004007	0	0
C2orf43	60526	broad.mit.edu	37	2	20901362	20901362	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:20901362C>T	ENST00000237822.3	-	6	833	c.754G>A	c.(754-756)Gat>Aat	p.D252N	C2orf43_ENST00000435420.2_Missense_Mutation_p.D204N|C2orf43_ENST00000541941.1_Missense_Mutation_p.D122N|C2orf43_ENST00000440866.2_3'UTR|C2orf43_ENST00000403006.2_Missense_Mutation_p.D122N|C2orf43_ENST00000381090.3_Missense_Mutation_p.D252N	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	252										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTCGTCATCTCTCTTCACC	0.383000													40	125					0	0	0.013114	0	0
FMN1	342184	broad.mit.edu	37	15	33192230	33192230	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:33192230C>T	ENST00000334528.9	-	10	2934	c.2935G>A	c.(2935-2937)Gat>Aat	p.D979N	FMN1_ENST00000559047.1_Missense_Mutation_p.D1202N|FMN1_ENST00000561249.1_Missense_Mutation_p.D1104N	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1202	FH2.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTATATCCATCGGCTTGTCCC	0.393000													42	112					0	0	0.009718	0	0
KCNH1	3756	broad.mit.edu	37	1	211192470	211192470	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:211192470G>A	ENST00000367007.4	-	6	856	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCNH1_ENST00000271751.4_Silent_p.F229F	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	229					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCTGTATAGAAGGTCAAGA	0.438000													18	33					0	0	0.006122	0	0
SCAF8	22828	broad.mit.edu	37	6	155153375	155153375	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:155153375C>G	ENST00000367178.3	+	20	3238	c.2662C>G	c.(2662-2664)Cca>Gca	p.P888A	SCAF8_ENST00000367186.4_Missense_Mutation_p.P954A|SCAF8_ENST00000417268.1_Missense_Mutation_p.P888A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	888	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGTACAGCCACCAAATGTTCC	0.458000													33	42					0	0	0.010818	0	0
CLIP2	7461	broad.mit.edu	37	7	73811473	73811473	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:73811473G>C	ENST00000223398.6	+	14	3117	c.2790G>C	c.(2788-2790)ctG>ctC	p.L930L	CLIP2_ENST00000395060.1_Silent_p.L930L|CLIP2_ENST00000361545.5_Silent_p.L895L	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	930						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGAGGGACCTGAGCCGTGAGG	0.627000													11	28					0	0	0.010729	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72496495	72496495	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:72496495C>T	ENST00000373208.1	+	10	1554	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	ADAMTS14_ENST00000373207.1_Silent_p.F515F	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	515	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCGTACTTCTGCAAGACCA	0.622000													21	26					0	0	0.016522	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481228	142481228	+	RNA	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:142481228G>A	ENST00000603901.1	+	0	302					NR_001296.3																						AAATACAACAGGATTATTCTG	0.517000													6	39					0	0	0.003080	0	0
GINS3	64785	broad.mit.edu	37	16	58438619	58438619	+	Missense_Mutation	SNP	G	G	C	rs144642422		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:58438619G>C	ENST00000318129.5	+	3	845	c.637G>C	c.(637-639)Gat>Cat	p.D213H	GINS3_ENST00000328514.7_Missense_Mutation_p.D135H|GINS3_ENST00000426538.2_Missense_Mutation_p.D252H	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	213					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						AAAATTCACTGATATGGAAGA	0.478000													7	19					0	0	0.001984	0	0
COASY	80347	broad.mit.edu	37	17	40717318	40717318	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:40717318C>G	ENST00000393818.2	+	6	1832	c.1376C>G	c.(1375-1377)gCt>gGt	p.A459G	COASY_ENST00000590958.1_Missense_Mutation_p.A488G|COASY_ENST00000420359.1_Missense_Mutation_p.A459G|COASY_ENST00000421097.2_Missense_Mutation_p.A459G|COASY_ENST00000449624.1_Missense_Mutation_p.A164G	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	459	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		ATGGATCGGGCTGTGGCTGAG	0.577000													5	94					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179415741	179415741	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:179415741C>A	ENST00000589042.1	-	336	91741	c.91517G>T	c.(91516-91518)aGc>aTc	p.S30506I	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21633I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21566I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27938I|TTN_ENST00000591111.1_Missense_Mutation_p.S28865I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S21441I|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28865	Fibronectin type-III 122.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGGGCGGGCTTATAGTTCC	0.388000													5	20					0.000602214	0.000625288	0.014758	1	0
WDTC1	23038	broad.mit.edu	37	1	27623546	27623546	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:27623546G>C	ENST00000319394.3	+	11	1492	c.957G>C	c.(955-957)caG>caC	p.Q319H	WDTC1_ENST00000361771.3_Missense_Mutation_p.Q318H	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	319							protein binding	p.Q318Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAGAAGTCCAGAATGGCAAGA	0.542000											OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	45					0	0	0.001984	0	0
NAP1L4	4676	broad.mit.edu	37	11	2975819	2975819	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:2975819C>T	ENST00000380542.4	-	12	1113	c.973G>A	c.(973-975)Gag>Aag	p.E325K	NAP1L4_ENST00000526115.1_Missense_Mutation_p.E325K	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	325					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		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;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		ACTATCCGCTCACGGAAAAAG	0.483000													11	30					0	0	0.010729	0	0
DIDO1	11083	broad.mit.edu	37	20	61512978	61512978	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61512978G>A	ENST00000266070.4	-	16	4655	c.4330C>T	c.(4330-4332)Ctg>Ttg	p.L1444L	DIDO1_ENST00000395343.1_Silent_p.L1444L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1444					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTTGGGCAGGTCATCAACA	0.617000													30	109					0	0	0.009535	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573559	106573559	+	RNA	SNP	A	A	G	rs10152051	by1000genomes	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:106573559A>G	ENST00000390601.2	-	0	166																											GAGACAACCTAGTCAGAAACT	0.488000													5	122					0	0	0.014758	0	0
CBLB	868	broad.mit.edu	37	3	105459361	105459361	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:105459361C>G	ENST00000264122.4	-	7	1281	c.960G>C	c.(958-960)ctG>ctC	p.L320L	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Silent_p.L320L|CBLB_ENST00000405772.1_Silent_p.L320L|CBLB_ENST00000394027.3_Silent_p.L342L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	320	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGCCATCAATCAGGGCTTGAA	0.418000			Mis S		AML								20	50					0	0	0.012319	0	0
PDE4D	5144	broad.mit.edu	37	5	58270810	58270810	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:58270810T>C	ENST00000340635.6	-	15	2286	c.2111A>G	c.(2110-2112)aAt>aGt	p.N704S	PDE4D_ENST00000360047.5_Missense_Mutation_p.N568S|PDE4D_ENST00000503258.1_Missense_Mutation_p.N574S|PDE4D_ENST00000317118.8_Missense_Mutation_p.N413S|PDE4D_ENST00000546160.1_Missense_Mutation_p.N643S|PDE4D_ENST00000507116.1_Missense_Mutation_p.N640S|PDE4D_ENST00000358923.6_Missense_Mutation_p.N402S|PDE4D_ENST00000502484.2_Missense_Mutation_p.N643S|PDE4D_ENST00000405755.2_Missense_Mutation_p.N582S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	704					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCATTCACGATTGTCCTCCAA	0.532000													8	27					0	0	0.003080	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853373	53853373	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:53853373C>T	ENST00000331251.3	+	1	2383	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	302					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				ACAGCTGCCTCAACCCCTTCC	0.652000													11	24					0	0	0.016723	0	0
ZNF667	63934	broad.mit.edu	37	19	56953098	56953098	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:56953098C>T	ENST00000504904.3	-	7	1985	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	ZNF667_ENST00000342634.3_Silent_p.K550K|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.K422K			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K422K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CAGAAAACATCTTCCCACATT	0.343000													10	19					0	0	0.006214	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62864655	62864655	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:62864655C>G	ENST00000584306.1	-	9	3509		c.e9-1		LRRC37A3_ENST00000319651.5_Splice_Site|LRRC37A3_ENST00000400877.3_Splice_Site|LRRC37A3_ENST00000339474.5_Splice_Site	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3							integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCCCATGTCTCTGAAGAAGAA	0.353000													21	69					0	0	0.005443	0	0
ITGB3	3690	broad.mit.edu	37	17	45387520	45387520	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45387520T>C	ENST00000559488.1	+	15	2333	c.2317T>C	c.(2317-2319)Tat>Cat	p.Y773H	ITGB3_ENST00000560629.1_Intron|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000435993.2_Intron	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	773					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CAACCCACTGTATAAAGAGGC	0.448000													14	35					0	0	0.004990	0	0
FAM20B	9917	broad.mit.edu	37	1	179013136	179013136	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:179013136C>T	ENST00000263733.4	+	2	490	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	52						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GCGGGTGGAGCTGGCACCCAA	0.567000													3	44					0	0	0.004672	0	0
SCG2	7857	broad.mit.edu	37	2	224463700	224463700	+	Missense_Mutation	SNP	C	C	G	rs137998511		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:224463700C>G	ENST00000305409.2	-	2	533	c.301G>C	c.(301-303)Gag>Cag	p.E101Q		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	101					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAATCCCTCTCGGGCAAGTGG	0.453000													26	51					0	0	0.021523	0	0
GOSR2	9570	broad.mit.edu	37	17	45012558	45012558	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45012558G>C	ENST00000415811.2	+	5	555	c.500G>C	c.(499-501)aGa>aCa	p.R167T	GOSR2_ENST00000225567.4_Intron|GOSR2_ENST00000576910.2_Intron|GOSR2_ENST00000439730.2_Intron|RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000393456.2_Intron	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	162					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CTGGGGGACAGAGAGAAGGCC	0.438000													23	60					0	0	0.018920	0	0
PLCD1	5333	broad.mit.edu	37	3	38065849	38065849	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:38065849C>T	ENST00000463876.1	-	1	429	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	PLCD1_ENST00000334661.4_Intron	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	0	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCATTGAGCGCCGCCACCTTA	0.672000													5	24					0	0	0.001168	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398359	23398359	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:23398359G>A	ENST00000379361.4	+	2	1863	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	335	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						AGTCCCTTTCGTCATGCTAGG	0.483000													10	83					0	0	0.013537	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756821	49756821	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:49756821G>T	ENST00000535833.1	-	10	3528	c.78C>A	c.(76-78)ttC>ttA	p.F26L	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.F26L|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	26	LRRNT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACGGGGCGGGAAACCCTCGG	0.642000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	37					9.31168e-06	9.81893e-06	0.016723	1	0
CASC1	55259	broad.mit.edu	37	12	25302597	25302597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:25302597G>C	ENST00000354189.5	-	7	759	c.724C>G	c.(724-726)Ctt>Gtt	p.L242V	CASC1_ENST00000395990.2_Missense_Mutation_p.L138V|CASC1_ENST00000320267.9_Missense_Mutation_p.L178V|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.L66V|CASC1_ENST00000395987.3_Missense_Mutation_p.L184V|CASC1_ENST00000545133.1_Missense_Mutation_p.L119V	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	178										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CCGAATTTAAGATGAAGGAGC	0.284000													10	34					0	0	0.008291	0	0
ZNF445	353274	broad.mit.edu	37	3	44497015	44497015	+	Silent	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:44497015G>T	ENST00000425708.2	-	2	368	c.27C>A	c.(25-27)gcC>gcA	p.A9A	ZNF445_ENST00000396077.2_Silent_p.A9A			P59923	ZN445_HUMAN	zinc finger protein 445	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAGCTGGATAGGCAGCATGCC	0.557000													10	47					2.17888e-05	2.28867e-05	0.006214	1	0
NSMCE1	197370	broad.mit.edu	37	16	27246536	27246536	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:27246536C>T	ENST00000361439.4	-	3	320	c.221G>A	c.(220-222)gGa>gAa	p.G74E		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	74					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						TTCCGTGACTCCTCTCTTTAT	0.493000											OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	34					0	0	0.008291	0	0
CTNND2	1501	broad.mit.edu	37	5	11117566	11117566	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:11117566C>A	ENST00000304623.8	-	13	2462	c.2273G>T	c.(2272-2274)aGc>aTc	p.S758I	CTNND2_ENST00000511377.1_Missense_Mutation_p.S667I|CTNND2_ENST00000458100.2_Missense_Mutation_p.S325I|CTNND2_ENST00000503622.1_Missense_Mutation_p.S421I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S758I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	758					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACCAACCTTGCTATCGATCTC	0.512000													29	87					2.12542e-12	2.36061e-12	0.006320	1	0
KIAA0100	9703	broad.mit.edu	37	17	26942708	26942708	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26942708C>A	ENST00000528896.2	-	38	6573	c.6499G>T	c.(6499-6501)Gac>Tac	p.D2167Y	SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D2024Y|KIAA0100_ENST00000544884.1_Missense_Mutation_p.D2024Y|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2167						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGCGGCTGTCCCTTTTGACA	0.557000													11	39					6.40141e-05	6.698e-05	0.010729	1	0
MGA	23269	broad.mit.edu	37	15	42042440	42042440	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:42042440C>G	ENST00000219905.7	+	17	6816	c.6635C>G	c.(6634-6636)tCa>tGa	p.S2212*	MGA_ENST00000545763.1_Nonsense_Mutation_p.S2003*|MGA_ENST00000389936.4_Nonsense_Mutation_p.S2173*|MGA_ENST00000566586.1_Nonsense_Mutation_p.S2003*|MGA_ENST00000570161.1_Nonsense_Mutation_p.S2212*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2173						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGGAAAATTCAGATGTGTTT	0.398000													31	66					0	0	0.013726	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510124	120510124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:120510124G>C	ENST00000256646.2	-	8	1604	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	462	EGF-like 12; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.S462*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGGGTCTGAATGGCACTC	0.507000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				14	72					0	0	0.016723	0	0
PLVAP	83483	broad.mit.edu	37	19	17476312	17476312	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:17476312G>A	ENST00000252590.4	-	3	1023	c.962C>T	c.(961-963)gCg>gTg	p.A321V		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTCTGTTTCGCCTCCTGACT	0.667000													4	33					0	0	0.009096	0	0
TMC3	342125	broad.mit.edu	37	15	81625286	81625286	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:81625286C>T	ENST00000558726.1	-	22	2915	c.2780G>A	c.(2779-2781)cGa>cAa	p.R927Q	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R926Q|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	926						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGCATATTGTCGCACGTTCCT	0.512000													17	36					0	0	0.006122	0	0
SRGAP3	9901	broad.mit.edu	37	3	9146379	9146379	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:9146379G>A	ENST00000383836.3	-	3	835	c.408C>T	c.(406-408)atC>atT	p.I136I	SRGAP3_ENST00000360413.3_Silent_p.I136I|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	136					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGAAGAGTCTGATGACATCCT	0.552000			T	RAF1	pilocytic astrocytoma								28	65					0	0	0.006320	0	0
KIAA0391	9692	broad.mit.edu	37	14	35592881	35592881	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:35592881A>G	ENST00000557565.1	+	2	811	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000250377.7_Missense_Mutation_p.I49V|KIAA0391_ENST00000321130.10_Missense_Mutation_p.I144V|KIAA0391_ENST00000603544.1_Missense_Mutation_p.I144V|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Missense_Mutation_p.I49V|KIAA0391_ENST00000534898.4_Missense_Mutation_p.I144V	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	144					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CGAAAGTTGGATCATTTCACA	0.398000													9	64					0	0	0.004482	0	0
AIP	9049	broad.mit.edu	37	11	67257650	67257650	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:67257650G>A	ENST00000279146.3	+	4	728	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	204					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CAAGTACTACGATGCCATTGC	0.607000									Familial Isolated Pituitary Adenoma				10	23					0	0	0.013537	0	0
MYO7B	4648	broad.mit.edu	37	2	128393891	128393891	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:128393891G>C	ENST00000389524.4	+	44	6093	c.6040G>C	c.(6040-6042)Gag>Cag	p.E2014Q	MYO7B_ENST00000409090.1_Missense_Mutation_p.E866Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.E2013Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.E2013Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2013	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCCTTCTTCGAGGTGAAGGT	0.612000													11	26					0	0	0.008291	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572355	47572355	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:47572355C>T	ENST00000253048.5	-	14	2429	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	798							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTGCCTTCCTCATTCTCCCGG	0.677000													38	95					0	0	0.006230	0	0
RARS	5917	broad.mit.edu	37	5	167933745	167933745	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:167933745A>G	ENST00000231572.3	+	11	1309	c.1255A>G	c.(1255-1257)Ata>Gta	p.I419V	RARS_ENST00000538719.1_Missense_Mutation_p.I213V	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	419					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CTTCCAGACAATATTTGCTGC	0.398000													24	30					0	0	0.018920	0	0
BCAS3	54828	broad.mit.edu	37	17	59067473	59067473	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:59067473A>G	ENST00000589222.1	+	15	1431	c.1363A>G	c.(1363-1365)Atg>Gtg	p.M455V	BCAS3_ENST00000408905.3_Missense_Mutation_p.M455V|BCAS3_ENST00000585744.1_Missense_Mutation_p.M226V|BCAS3_ENST00000588874.1_Missense_Mutation_p.M226V|BCAS3_ENST00000588462.1_Missense_Mutation_p.M455V|BCAS3_ENST00000407086.3_Missense_Mutation_p.M455V|BCAS3_ENST00000390652.5_Missense_Mutation_p.M455V			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	455						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTGAATCGCATGAGCCGTTT	0.512000													17	38					0	0	0.004007	0	0
CFP	5199	broad.mit.edu	37	X	47485822	47485822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:47485822C>T	ENST00000247153.3	-	8	1278	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CFP_ENST00000396992.3_Missense_Mutation_p.R346H|CFP_ENST00000377005.2_Missense_Mutation_p.R346H	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	346	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space		p.R346H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGTCCTCCCGCGTGACTGCTG	0.622000													12	23					0	0	0.020292	0	0
RBP3	5949	broad.mit.edu	37	10	48388414	48388414	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:48388414C>T	ENST00000224600.4	-	1	2577	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	822	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTCCACACCTCCGTGACTTTT	0.617000													4	33					0	0	0.014758	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21391927	21391927	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:21391927G>T	ENST00000256958.2	+	15	1976	c.1880G>T	c.(1879-1881)gGc>gTc	p.G627V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	627					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTCTACTTGGGCTTGTCTTCA	0.279000													8	31					0.00307968	0.00317336	0.003080	1	0
C8A	731	broad.mit.edu	37	1	57351743	57351743	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:57351743C>T	ENST00000361249.3	+	7	1095	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	333	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATGCCAAGTTCATCAATGACT	0.398000													24	38					0	0	0.014323	0	0
DUOX2	50506	broad.mit.edu	37	15	45396470	45396470	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:45396470C>T	ENST00000389039.6	-	19	2813	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	DUOX2_ENST00000603300.1_Missense_Mutation_p.E810K			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	810					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCGGCAAACTCGGCCCTGCTC	0.627000													12	14					0	0	0.016723	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516477	118516477	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:118516477G>C	ENST00000361417.2	+	18	3852	c.3441G>C	c.(3439-3441)aaG>aaC	p.K1147N	PHLDB1_ENST00000524713.1_Missense_Mutation_p.K290N|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.K1100N|PHLDB1_ENST00000527898.1_Missense_Mutation_p.K198N	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1147										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACATGGGGAAGATCGAGGAGA	0.612000													21	46					0	0	0.012319	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170794	90170794	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:90170794C>T	ENST00000609438.1	-	2	986	c.468G>A	c.(466-468)atG>atA	p.M156I	GPRIN3_ENST00000333209.4_Missense_Mutation_p.M156I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTGTGATCTCATCAGGGAAT	0.517000													28	63					0	0	0.004656	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470474	70470474	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:70470474G>C	ENST00000373998.1	-	5	1578	c.881C>G	c.(880-882)tCa>tGa	p.S294*	ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.S294*|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.S296*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.S294*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.S296*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.S296*|ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.S294*	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	294					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGACACACTTGAGCGTAGGGA	0.587000													5	15					0	0	0.014758	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171773245	171773245	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:171773245C>T	ENST00000311601.5	-	12	1253	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	SH3PXD2B_ENST00000519643.1_Silent_p.P361P	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	361					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCGGCTTCGGCAGGTTGA	0.597000													34	68					0	0	0.019004	0	0
TRERF1	55809	broad.mit.edu	37	6	42224510	42224510	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:42224510C>T	ENST00000541110.1	-	12	3164	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	TRERF1_ENST00000354325.2_Missense_Mutation_p.E763K|TRERF1_ENST00000372922.4_Missense_Mutation_p.E846K|TRERF1_ENST00000340840.2_Missense_Mutation_p.E763K|TRERF1_ENST00000372917.4_Missense_Mutation_p.E763K			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	846	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AAAGCAAATTCAGAATTGGTC	0.438000													15	43					0	0	0.004990	0	0
FOLH1	2346	broad.mit.edu	37	11	49175904	49175904	+	Silent	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:49175904G>T	ENST00000340334.7	-	17	2087	c.1719C>A	c.(1717-1719)gcC>gcA	p.A573A	FOLH1_ENST00000256999.2_Silent_p.A588A|FOLH1_ENST00000533034.1_Silent_p.A573A|FOLH1_ENST00000343844.4_Silent_p.A280A|FOLH1_ENST00000356696.3_Silent_p.A588A	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	588	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTATGGAATTGGCTAGCTCAA	0.383000													7	42					2.27111e-07	2.45208e-07	0.013537	1	0
TNXB	7148	broad.mit.edu	37	6	32014155	32014155	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:32014155G>T	ENST00000375244.3	-	31	10604	c.10403C>A	c.(10402-10404)tCc>tAc	p.S3468Y	TNXB_ENST00000375247.2_Missense_Mutation_p.S3466Y			P22105	TENX_HUMAN	tenascin XB	3513	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TACCGTCCAGGACAGGCGCAG	0.662000													16	23					4.7546e-09	5.21659e-09	0.004007	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080172	57080172	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:57080172C>G	ENST00000532437.1	-	4	2301	c.1990G>C	c.(1990-1992)Gag>Cag	p.E664Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E664Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	664	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCTTGAGCCTCTGTCCTGGCT	0.642000													13	29					0	0	0.016723	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526504	54526504	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:54526504G>A	ENST00000566473.2	+	10	1173	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	ANKFN1_ENST00000318698.2_Silent_p.L391L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	391										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGGAAGGTCTGCTGCAGCAGG	0.468000													17	47					0	0	0.008871	0	0
LIN54	132660	broad.mit.edu	37	4	83858433	83858433	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:83858433C>G	ENST00000340417.3	-	9	1928	c.1551G>C	c.(1549-1551)tcG>tcC	p.S517S	LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000446851.2_Silent_p.S296S|LIN54_ENST00000506560.1_Silent_p.S428S|LIN54_ENST00000395283.2_Silent_p.S428S|LIN54_ENST00000505397.1_Silent_p.S517S|LIN54_ENST00000510557.1_Silent_p.S296S|LIN54_ENST00000442461.2_Silent_p.S296S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	517					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S517S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GCCGACTGGCCGACTCTGATG	0.303000													10	69					0	0	0.006214	0	0
RABEPK	10244	broad.mit.edu	37	9	127996208	127996208	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:127996208G>A	ENST00000373538.3	+	8	1378	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.M305I|RABEPK_ENST00000394125.4_Missense_Mutation_p.M356I	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	356					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TTGGTGGGATGAATACAGAAG	0.408000													37	85					0	0	0.007835	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142693069	142693069	+	RNA	DEL	A	A	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:142693069delA	ENST00000610091.1	-	0	3506																											TCAGTTAACTAAGTGTGAGTT	0.284													2	4	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs138980379		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGTAGATTGTTATTTCGTTTTT	0.416													2	4	---	---	---	---					
TXNIP	10628	broad.mit.edu	37	1	145438899	145438900	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:145438899_145438900insT	ENST00000369317.4	+	1	431_432	c.97_98insT	c.(97-99)gtgfs	p.V33fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	33					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGGGTGATAGTGGAGGTGTGT	0.515													7	31	---	---	---	---					
B3GNT2	10678	broad.mit.edu	37	2	62449660	62449673	+	Frame_Shift_Del	DEL	TCACGTCGGTGGTT	TCACGTCGGTGGTT	-	rs72893877	byFrequency	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:62449660_62449673delTCACGTCGGTGGTT	ENST00000301998.4	+	2	557_570	c.305_318delTCACGTCGGTGGTT	c.(304-318)gtcacgtcggtggttfs	p.VTSVV102fs	B3GNT2_ENST00000405767.1_Frame_Shift_Del_p.VTSVV102fs	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	102						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GACCTGAGGGTCACGTCGGTGGTTACGGGTTTTA	0.500													21	332	---	---	---	---					
CENPC	1060	broad.mit.edu	37	4	68358626	68358627	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:68358626_68358627insT	ENST00000273853.6	-	15	2629_2630	c.2379_2380insA	c.(2377-2382)aaatctfs	p.S794fs		NM_001812.2	NP_001803.2			centromere protein C																		TTCTTATTAGATTTTTTGTTGA	0.297													2	4	---	---	---	---					
C5orf45	51149	broad.mit.edu	37	5	179264671	179264700	+	In_Frame_Del	DEL	TGAAGAGACCTTGGCTGCTCACTGTCCACA	TGAAGAGACCTTGGCTGCTCACTGTCCACA	-	rs61742526	byFrequency	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:179264671_179264700delTGAAGAGACCTTGGCTGCTCACTGTCCACA	ENST00000292586.6	-	7	813_842	c.723_752delTGTGGACAGTGAGCAGCCAAGGTCTCTTCA	c.(721-753)catgtggacagtgagcagccaaggtctcttcag>cag	p.HVDSEQPRSL241del	C5orf45_ENST00000523084.1_In_Frame_Del_p.HVDSEQPRSL107del|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_In_Frame_Del_p.HVDSEQPRSL186del|C5orf45_ENST00000521333.1_3'UTR|C5orf45_ENST00000523267.1_5'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	241								p.P247P(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTT	0.587													7	28	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131367428	131367429	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:131367428_131367429delGA	ENST00000372739.3	+	30	3945_3946	c.3835_3836delGA	c.(3835-3837)gagfs	p.E1279fs	SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.E1279fs|SPTAN1_ENST00000372731.4_Frame_Shift_Del_p.E1279fs	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1279					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAGGGCTTCGAGAGGGACCTT	0.500													11	22	---	---	---	---					
RAB3IL1	5866	broad.mit.edu	37	11	61675683	61675683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:61675683delG	ENST00000394836.2	-	2	264	c.107delC	c.(106-108)ccafs	p.P36fs	RAB3IL1_ENST00000301773.5_Frame_Shift_Del_p.P83fs	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	36							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CAGGGCTCCTGGGGACTCCCT	0.721													2	4	---	---	---	---					
PAN2	9924	broad.mit.edu	37	12	56720730	56720730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:56720730delG	ENST00000425394.2	-	7	1309	c.933delC	c.(931-933)ttcfs	p.F311fs	PAN2_ENST00000257931.5_Frame_Shift_Del_p.F311fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.F311fs|PAN2_ENST00000548043.1_Frame_Shift_Del_p.F311fs	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	311					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGGTTCACAGAATTGGCACT	0.512													17	44	---	---	---	---					
GTF3A	2971	broad.mit.edu	37	13	28006890	28006890	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr13:28006890delA	ENST00000381140.4	+	5	705	c.511delA	c.(511-513)aaafs	p.K171fs	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	171					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		AGGATGTGGGAAACACTTTGC	0.532													3	5	---	---	---	---					
RP11-678G14.2	0	broad.mit.edu	37	19	21749277	21749278	+	RNA	DEL	TC	TC	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:21749277_21749278delTC	ENST00000594564.1	-	0	134																											AGAAATTATTTCTGTTTTCCCC	0.401													3	4	---	---	---	---