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
TBX19	9095	broad.mit.edu	37	1	168260635	168260635	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:168260635G>T	ENST00000367821.3	+	2	492	c.441G>T	c.(439-441)ctG>ctT	p.L147L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	147					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AAGTGAAGCTGACCAACAAGC	0.587000													6	138					3.59834e-05	6.14853e-05	0.001168	1	0
KCNC4	3749	broad.mit.edu	37	1	110754320	110754320	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:110754320G>A	ENST00000369787.3	+	1	226	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNC4_ENST00000438661.2_Missense_Mutation_p.D67N|KCNC4_ENST00000413138.3_Missense_Mutation_p.D67N	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	67					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGGCTGGCCGACCCCGACGG	0.721000													6	25					0	0	0.004482	0	0
DST	667	broad.mit.edu	37	6	56437028	56437028	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:56437028G>C	ENST00000370754.5	-	53	13497	c.13498C>G	c.(13498-13500)Ctt>Gtt	p.L4500V	DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.L4320V|DST_ENST00000370788.2_Missense_Mutation_p.L2234V|DST_ENST00000421834.2_Missense_Mutation_p.L2234V|DST_ENST00000244364.6_Missense_Mutation_p.L1908V|DST_ENST00000370769.4_Missense_Mutation_p.L4322V|DST_ENST00000446842.2_Missense_Mutation_p.L3996V			Q03001	DYST_HUMAN	dystonin	4320					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAAACTTCAAGATGTTTCTTG	0.333000													5	11					0	0	0.001168	0	0
RASD1	51655	broad.mit.edu	37	17	17399349	17399349	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:17399349G>A	ENST00000225688.3	-	1	358	c.147C>T	c.(145-147)ttC>ttT	p.F49F	RASD1_ENST00000579152.1_Silent_p.F49F	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	49					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						AGGCGTCCTCGAAGCGGCCGG	0.622000													16	52					0	0	0.007413	0	0
C9orf96	169436	broad.mit.edu	37	9	136260786	136260786	+	Silent	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:136260786C>A	ENST00000371957.3	+	9	869	c.762C>A	c.(760-762)gcC>gcA	p.A254A	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	254	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCTGAAGGCCGTCCTGAAGA	0.557000													29	66					3.65163e-15	6.57117e-15	0.006320	1	0
EIF2B5	8893	broad.mit.edu	37	3	183861986	183861986	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:183861986G>A	ENST00000273783.3	+	14	2091	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	EIF2B5_ENST00000444495.1_Missense_Mutation_p.E657K	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	657	W2.				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCTAGAGCATGAAGCTCTTGG	0.502000													30	171					0	0	0.002445	0	0
TTN	7273	broad.mit.edu	37	2	179612368	179612368	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:179612368G>C	ENST00000360870.5	-	46	14981	c.14759C>G	c.(14758-14760)aCt>aGt	p.T4920S	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1043	Ig-like 29.						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)			GGTGTCTTTAGTTTCAGGAAC	0.428000													7	55					0	0	0.003080	0	0
CHPF	79586	broad.mit.edu	37	2	220408070	220408070	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220408070G>A	ENST00000243776.6	-	1	439	c.191C>T	c.(190-192)tCg>tTg	p.S64L	CHPF_ENST00000373891.2_Missense_Mutation_p.S64L	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	64						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGCTGCACCGAGTTGGGCCG	0.756000													7	19					0	0	0.001984	0	0
CCSER1	401145	broad.mit.edu	37	4	91230678	91230678	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:91230678G>C	ENST00000509176.1	+	2	1531	c.1243G>C	c.(1243-1245)Gat>Cat	p.D415H	CCSER1_ENST00000333691.8_Missense_Mutation_p.D415H|CCSER1_ENST00000432775.2_Missense_Mutation_p.D415H	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TCCTATTTCAGATTCAAAGAT	0.363000													22	34					0	0	0.002299	0	0
CRTAM	56253	broad.mit.edu	37	11	122720855	122720855	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:122720855G>A	ENST00000227348.4	+	2	173	c.126G>A	c.(124-126)ctG>ctA	p.L42L		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	42	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCACTTCTCTGAGGAAGAACT	0.483000													22	29					0	0	0.001882	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41107889	41107889	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:41107889C>T	ENST00000427255.2	-	5	626	c.559G>A	c.(559-561)Gag>Aag	p.E187K	PPP1R14D_ENST00000299174.5_3'UTR	NM_001130143.1	NP_001123615.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	0					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GATGGTCTCTCAGGCTTATTT	0.517000													7	35					0	0	0.006214	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62490138	62490138	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:62490138C>G	ENST00000301785.5	-	6	1222	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E344Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	344	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGTCCATTTTCTGCCTTGAGT	0.428000													13	55					0	0	0.003163	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19363042	19363042	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:19363042C>T	ENST00000454498.2	-	4	1317	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D102N|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D102N|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D102N|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D102N	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	102					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCAGCAGCATCGCTGGCTTGG	0.627000													20	42					0	0	0.007413	0	0
ESYT1	23344	broad.mit.edu	37	12	56522298	56522298	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:56522298G>C	ENST00000394048.5	+	1	459	c.195G>C	c.(193-195)ctG>ctC	p.L65L	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000541590.1_Silent_p.L65L|ESYT1_ENST00000267113.4_Silent_p.L65L	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	65						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGCTGGTGCTGATACCTGTGT	0.672000													5	15					0	0	0.000602	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													3	85					0	0	0.000248	0	0
RNF19A	25897	broad.mit.edu	37	8	101287254	101287254	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:101287254C>G	ENST00000519449.1	-	4	1126	c.810G>C	c.(808-810)gaG>gaC	p.E270D	RNF19A_ENST00000341084.2_Missense_Mutation_p.E270D	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	270					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCTGGGCTCTCTCTTGTCGAG	0.428000													10	69					0	0	0.000978	0	0
NRXN1	9378	broad.mit.edu	37	2	50765639	50765639	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:50765639C>A	ENST00000404971.1	-	11	3354	c.2015G>T	c.(2014-2016)tGg>tTg	p.W672L	NRXN1_ENST00000406859.3_Missense_Mutation_p.W632L|NRXN1_ENST00000406316.2_Missense_Mutation_p.W632L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W624L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.W624L|NRXN1_ENST00000401669.2_Missense_Mutation_p.W632L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	632	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGAGCAGTCCACACCTCGGT	0.517000													15	186					1.05317e-09	1.85487e-09	0.002450	1	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369193	20369193	+	RNA	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:20369193G>C	ENST00000593655.1	-	0	199																											GGGAAACATTGAAATCAAGGA	0.403000													13	45					0	0	0.001368	0	0
CACNG2	10369	broad.mit.edu	37	22	36960607	36960607	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:36960607C>T	ENST00000300105.6	-	4	1744	c.763G>A	c.(763-765)Gtg>Atg	p.V255M		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	255					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTGATGCCCACGGGGGAGGCG	0.687000													32	91					0	0	0.001786	0	0
EP400	57634	broad.mit.edu	37	12	132554096	132554096	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:132554096G>A	ENST00000333577.4	+	52	9148	c.9039G>A	c.(9037-9039)gcG>gcA	p.A3013A	EP400_ENST00000330386.6_Silent_p.A2896A|EP400_ENST00000389561.2_Silent_p.A2977A|EP400_ENST00000332482.4_Silent_p.A2940A|EP400_ENST00000389562.2_Silent_p.A2976A			Q96L91	EP400_HUMAN	E1A binding protein p400	3013					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTACGCCGCGCAGCCGGCCC	0.647000													18	106					0	0	0.004990	0	0
HECTD4	283450	broad.mit.edu	37	12	112605283	112605283	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:112605283G>A	ENST00000550722.1	-	72	12329	c.11934C>T	c.(11932-11934)ttC>ttT	p.F3978F	HECTD4_ENST00000430131.2_Silent_p.F3702F|HECTD4_ENST00000377560.5_Silent_p.F3952F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCTGCCCCAGGAAGTGCAGCA	0.662000													14	43					0	0	0.001855	0	0
BCKDHB	594	broad.mit.edu	37	6	81053418	81053418	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:81053418G>C	ENST00000320393.6	+	10	1123	c.1076G>C	c.(1075-1077)aGa>aCa	p.R359T	BCKDHB_ENST00000356489.5_Missense_Mutation_p.R359T|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	359					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CCTATATCAAGAGTATGTGGT	0.373000													5	45					0	0	0.000602	0	0
DAGLA	747	broad.mit.edu	37	11	61511546	61511546	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:61511546C>T	ENST00000257215.5	+	20	2830	c.2714C>T	c.(2713-2715)tCg>tTg	p.S905L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	905					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGGGGGACTCGCCCAGTCCT	0.652000													9	37					0	0	0.006214	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414035	105414035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:105414035G>A	ENST00000333244.5	-	7	7872	c.7753C>T	c.(7753-7755)Cag>Tag	p.Q2585*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2585						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCTAGCTGGGGGCCCTTG	0.627000													67	220					0	0	0.003610	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104209072	104209072	+	Silent	SNP	C	C	T	rs12891833		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:104209072C>T	ENST00000202556.9	-	10	1521	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	413					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CCTCCACGCTCGGATCCTTCC	0.552000													9	69					0	0	0.006214	0	0
SLIT2	9353	broad.mit.edu	37	4	20530585	20530585	+	Silent	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:20530585T>C	ENST00000504154.1	+	16	1728	c.1476T>C	c.(1474-1476)taT>taC	p.Y492Y	SLIT2_ENST00000273739.5_Silent_p.Y496Y|SLIT2_ENST00000503837.1_Silent_p.Y488Y|SLIT2_ENST00000503823.1_Silent_p.Y484Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	492					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGAAGATTATCGATCAAAAT	0.353000													13	51					0	0	0.003163	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109197	42109197	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:42109197G>A	ENST00000457542.2	+	14	1961	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E559K|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E398K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E442K|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E565K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	565										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GACGCTGGACGAACACTCATC	0.602000													8	110					0	0	0.004482	0	0
UPF1	5976	broad.mit.edu	37	19	18976383	18976383	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:18976383G>A	ENST00000262803.5	+	22	3305	c.3033G>A	c.(3031-3033)ccG>ccA	p.P1011P	UPF1_ENST00000599848.1_Silent_p.P1022P	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1022					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GAGGCACCCCGAAAGGCAAGA	0.632000													6	106					0	0	0.001168	0	0
SARM1	23098	broad.mit.edu	37	17	26711577	26711577	+	Missense_Mutation	SNP	G	G	A	rs137938585	by1000genomes	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:26711577G>A	ENST00000457710.3	+	3	1660	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	431					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CAAGTACTGCGAGAGCTTCCG	0.682000													6	18					0	0	0.003080	0	0
FAM83G	644815	broad.mit.edu	37	17	18881970	18881970	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:18881970C>T	ENST00000388995.6	-	5	1232	c.1009G>A	c.(1009-1011)Gcg>Acg	p.A337T	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A337T|FAM83G_ENST00000345041.4_Missense_Mutation_p.A337T|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	337										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ACAGTGCCCGCGGGCACCAGG	0.597000													40	148					0	0	0.002222	0	0
MFSD2A	84879	broad.mit.edu	37	1	40433512	40433512	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:40433512G>A	ENST00000372809.5	+	11	1314	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.E222K|MFSD2A_ENST00000372811.5_Missense_Mutation_p.E378K	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	391					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGCCCTCATGGAGAGTAACCT	0.542000													11	69					0	0	0.008291	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134215	21134215	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:21134215G>A	ENST00000215727.5	+	2	898	c.615G>A	c.(613-615)ctG>ctA	p.L205L	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.L205L	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	205	Glycosaminoglycan-binding site.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TCCGTAAGCTGACTCATCGCC	0.418000													17	72					0	0	0.007413	0	0
ERAP1	51752	broad.mit.edu	37	5	96130758	96130758	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:96130758G>A	ENST00000296754.3	-	5	1163	c.906C>T	c.(904-906)ccC>ccT	p.P302P	ERAP1_ENST00000443439.2_Silent_p.P302P	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	302					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GTTTGGGTAGGGGATACGGTA	0.388000													4	21					0	0	0.000602	0	0
TANGO6	79613	broad.mit.edu	37	16	68877575	68877575	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:68877575C>T	ENST00000261778.1	+	1	67	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CGGTCTGGATCGGATTTTGGA	0.697000													15	131					0	0	0.002450	0	0
LRRC27	80313	broad.mit.edu	37	10	134165110	134165110	+	Splice_Site	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:134165110G>A	ENST00000392638.2	+	8	1216		c.e8-1		LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368615.3_Splice_Site|LRRC27_ENST00000368613.4_Splice_Site|LRRC27_ENST00000368612.1_Splice_Site|LRRC27_ENST00000344079.5_Splice_Site|LRRC27_ENST00000368614.3_Splice_Site|LRRC27_ENST00000432555.2_Splice_Site|LRRC27_ENST00000368610.3_Splice_Site			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TGTAATTTTAGAAGGAAGACA	0.483000													63	213					0	0	0.003610	0	0
HIPK4	147746	broad.mit.edu	37	19	40889957	40889957	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:40889957C>G	ENST00000291823.2	-	2	839	c.555G>C	c.(553-555)gaG>gaC	p.E185D		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	185	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCAGCAGGATCTCAGGGGCCC	0.632000													16	57					0	0	0.004007	0	0
GPR55	9290	broad.mit.edu	37	2	231774833	231774833	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:231774833C>T	ENST00000392040.1	-	2	1037	c.845G>A	c.(844-846)tGc>tAc	p.C282Y	GPR55_ENST00000392039.2_Missense_Mutation_p.C282Y	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	282					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AACATCCAGGCAGCAGTTGAC	0.512000													24	80					0	0	0.003954	0	0
DNAH9	1770	broad.mit.edu	37	17	11584154	11584154	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:11584154G>C	ENST00000262442.3	+	19	3759	c.3691G>C	c.(3691-3693)Gat>Cat	p.D1231H	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1231H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1231	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CACAGCCTTCGATGCAGAACA	0.522000													9	24					0	0	0.004482	0	0
FLG2	388698	broad.mit.edu	37	1	152327870	152327870	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:152327870C>T	ENST00000388718.5	-	3	2464	c.2392G>A	c.(2392-2394)Ggg>Agg	p.G798R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	798	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCTGACCCATGTTGTCCA	0.522000													44	417					0	0	0.003610	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200087	67200087	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:67200087G>A	ENST00000312629.5	+	6	519	c.474G>A	c.(472-474)acG>acA	p.T158T	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000539188.1_3'UTR|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	158	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGCTCTTCACGCATCTGGAGC	0.567000													22	74					0	0	0.002780	0	0
SMEK2	57223	broad.mit.edu	37	2	55806911	55806911	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:55806911C>T	ENST00000272313.5	-	9	1699	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	SMEK2_ENST00000345102.5_Missense_Mutation_p.E458K|SMEK2_ENST00000407823.3_Missense_Mutation_p.E458K	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	458						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACTTTTTTCGGTTTTCTGA	0.308000													10	25					0	0	0.006214	0	0
AGO3	192669	broad.mit.edu	37	1	36474571	36474571	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:36474571C>G	ENST00000373191.4	+	8	1304	c.955C>G	c.(955-957)Ctt>Gtt	p.L319V	RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.L85V	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		AAAGTATACTCTTCAGCTGAA	0.438000													10	63					0	0	0.006214	0	0
AKAP6	9472	broad.mit.edu	37	14	33293569	33293569	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:33293569G>A	ENST00000280979.4	+	13	6720	c.6550G>A	c.(6550-6552)Gaa>Aaa	p.E2184K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2184					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTTCCCAGCGAAGCTGCAAT	0.458000													8	22					0	0	0.003080	0	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168226205	168226205	+	RNA	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:168226205G>A	ENST00000359760.5	-	0	1184					NR_027906.1																						GGCAGATAACGATGTGTCTGA	0.532000													4	11					0	0	0.000248	0	0
FDXR	2232	broad.mit.edu	37	17	72860147	72860147	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:72860147C>G	ENST00000455107.2	-	10	1409	c.993G>C	c.(991-993)tgG>tgC	p.W331C	FDXR_ENST00000582944.1_Missense_Mutation_p.E341Q|FDXR_ENST00000583917.1_Missense_Mutation_p.E321Q|FDXR_ENST00000293195.5_Missense_Mutation_p.E349Q|FDXR_ENST00000581530.1_Missense_Mutation_p.E355Q|FDXR_ENST00000544854.1_Missense_Mutation_p.E297Q|FDXR_ENST00000442102.2_Missense_Mutation_p.E392Q|FDXR_ENST00000420580.2_Missense_Mutation_p.E309Q|FDXR_ENST00000413947.2_Missense_Mutation_p.E380Q			P22570	ADRO_HUMAN	ferredoxin reductase	0					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGAGGTCTTCCATGTCTCCC	0.632000													8	75					0	0	0.004482	0	0
MRPL20	55052	broad.mit.edu	37	1	1341194	1341194	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:1341194C>G	ENST00000482352.1	-	3	343	c.271G>C	c.(271-273)Gtt>Ctt	p.V91L	MRPL20_ENST00000493287.1_5'UTR|MRPL20_ENST00000344843.7_Missense_Mutation_p.V91L			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	91							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATACCTTAACTAAATTCCCA	0.453000													40	130					0	0	0.003610	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074141	8074141	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:8074141G>A	ENST00000075120.7	-	10	1599	c.1359C>T	c.(1357-1359)acC>acT	p.T453T		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	453					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TCCTGCCACGGGTCTCAGGGA	0.488000													21	79					0	0	0.002299	0	0
MAP3K11	4296	broad.mit.edu	37	11	65380700	65380700	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:65380700G>T	ENST00000309100.3	-	1	1013	c.528C>A	c.(526-528)atC>atA	p.I176I		NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	176	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						TGAGGGCAATGATGTTGGGGT	0.667000													7	51					0.00307968	0.00517914	0.003080	1	0
SEL1L3	23231	broad.mit.edu	37	4	25792177	25792177	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:25792177C>G	ENST00000399878.3	-	12	2098	c.1976G>C	c.(1975-1977)aGa>aCa	p.R659T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.R624T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R506T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	659						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCTTTTAGTCTAATTGTTTC	0.443000													13	41					0	0	0.001855	0	0
SASH1	23328	broad.mit.edu	37	6	148865685	148865685	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:148865685G>A	ENST00000367467.3	+	18	3554	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1027	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGGCAGCCCCGCCAGCCCCAC	0.701000													5	37					0	0	0.001168	0	0
AP1M1	8907	broad.mit.edu	37	19	16314374	16314374	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:16314374C>T	ENST00000291439.3	+	2	596	c.147C>T	c.(145-147)atC>atT	p.I49I	AP1M1_ENST00000429941.2_Silent_p.I49I|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Silent_p.I49I	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	49					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TGTCGCCCATCCTGGCCCACG	0.592000													20	44					0	0	0.001523	0	0
CLK2	1196	broad.mit.edu	37	1	155238104	155238104	+	Silent	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:155238104T>C	ENST00000368361.4	-	5	849	c.534A>G	c.(532-534)gtA>gtG	p.V178V	CLK2_ENST00000536801.1_Silent_p.V178V|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.V177V|CLK2_ENST00000355560.4_Silent_p.V176V			P49760	CLK2_HUMAN	CDC-like kinase 2	178	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAACACATTGTACAACTCGGC	0.502000								Other conserved DNA damage response genes					15	51					0	0	0.004007	0	0
FANCI	55215	broad.mit.edu	37	15	89802003	89802003	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:89802003C>T	ENST00000310775.7	+	3	239	c.153C>T	c.(151-153)ttC>ttT	p.F51F	FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Silent_p.F51F|FANCI_ENST00000567996.1_Silent_p.F51F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	51					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAGCCATCTTCAAAGGTAATA	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	93					0	0	0.002450	0	0
LRRC66	339977	broad.mit.edu	37	4	52861239	52861239	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:52861239G>A	ENST00000343457.3	-	4	1955	c.1949C>T	c.(1948-1950)tCa>tTa	p.S650L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	650						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTAGTGGGCTGAAAGCGCTTC	0.532000													16	40					0	0	0.004990	0	0
MAP3K5	4217	broad.mit.edu	37	6	137019686	137019686	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:137019686G>A	ENST00000359015.4	-	4	1107	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	249					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGGTAAGCAGATGGGTCCAA	0.413000													6	23					0	0	0.001984	0	0
TMED10	10972	broad.mit.edu	37	14	75643164	75643164	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:75643164G>C	ENST00000303575.4	-	1	170	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	40					protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GCACTTGCGAGAGTTAATGGG	0.622000													5	100					0	0	0.000602	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590572	125590572	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:125590572T>C	ENST00000504087.1	-	4	4897	c.3860A>G	c.(3859-3861)aAa>aGa	p.K1287R	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K1108R	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1287	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTACTTTGTTTCGCTTTTTT	0.418000													4	126					0	0	0.000248	0	0
SETD3	84193	broad.mit.edu	37	14	99925500	99925500	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:99925500A>G	ENST00000331768.5	-	5	527	c.368T>C	c.(367-369)gTt>gCt	p.V123A	SETD3_ENST00000329331.3_Missense_Mutation_p.V123A|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000436070.2_Missense_Mutation_p.V123A	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	123	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTTTCGTGGAACCCATAAAAA	0.343000													12	92					0	0	0.001855	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880747	15880747	+	RNA	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:15880747C>G	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							GTGTCAGCCTCTGCTCTTACA	0.522000													4	30					0	0	0.001168	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262649	232262649	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:232262649C>T	ENST00000287590.5	+	2	480	c.219C>T	c.(217-219)ccC>ccT	p.P73P	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	73					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGCCCACGCCCATGGCCTCTC	0.617000													15	54					0	0	0.002450	0	0
BZRAP1	9256	broad.mit.edu	37	17	56403660	56403660	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:56403660C>T	ENST00000355701.3	-	3	1434	c.564G>A	c.(562-564)ctG>ctA	p.L188L	BZRAP1_ENST00000343736.4_Silent_p.L188L|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000268893.6_Silent_p.L188L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	188						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACCACCCTCAGGTTCGTTT	0.637000													23	48					0	0	0.003330	0	0
TECPR2	9895	broad.mit.edu	37	14	102901519	102901519	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:102901519G>C	ENST00000359520.7	+	9	2591	c.2365G>C	c.(2365-2367)Gag>Cag	p.E789Q	TECPR2_ENST00000558678.1_Missense_Mutation_p.E789Q	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	789							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						GCTGGGTGCAGAGGACGCCGG	0.552000													19	92					0	0	0.008871	0	0
CYTH2	9266	broad.mit.edu	37	19	48981790	48981790	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:48981790G>T	ENST00000427476.1	+	11	1356	c.1056G>T	c.(1054-1056)atG>atT	p.M352I	CYTH2_ENST00000452733.2_Missense_Mutation_p.M351I	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	352	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAAACCACATGGTGTACCGGA	0.597000													9	60					0.000274275	0.000465456	0.004482	1	0
CADPS2	93664	broad.mit.edu	37	7	121960236	121960236	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:121960236C>T	ENST00000334010.7	-	28	4289	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	CADPS2_ENST00000449022.2_Missense_Mutation_p.E1292K|CADPS2_ENST00000313070.7_Missense_Mutation_p.E1251K|CADPS2_ENST00000412584.2_Missense_Mutation_p.E1251K	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1292					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTCTTCTTCGTCACTGTCT	0.413000													20	78					0	0	0.001882	0	0
DGKE	8526	broad.mit.edu	37	17	54912414	54912414	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:54912414C>G	ENST00000284061.3	+	2	438	c.258C>G	c.(256-258)ttC>ttG	p.F86L	DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Missense_Mutation_p.F86L	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	86					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGGGCGCCTTCTGCGACTGCT	0.627000													11	43					0	0	0.001368	0	0
ASXL3	80816	broad.mit.edu	37	18	31320039	31320039	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:31320039G>A	ENST00000269197.5	+	11	2671	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAAGGGACAGATAATAAGGG	0.348000													9	53					0	0	0.000978	0	0
ZNF629	23361	broad.mit.edu	37	16	30794731	30794731	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:30794731G>A	ENST00000262525.4	-	3	1125	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TCTGGTGCTTGAGGAGGTTGT	0.642000													18	95					0	0	0.008871	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	171516	171516	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:171516A>G	ENST00000283426.6	+	14	2989	c.2939A>G	c.(2938-2940)cAc>cGc	p.H980R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	980	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGCTGCGTCACGGCAATGAC	0.667000													4	30					0	0	0.000602	0	0
CPT1C	126129	broad.mit.edu	37	19	50208329	50208329	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:50208329C>T	ENST00000392518.4	+	9	1209	c.837C>T	c.(835-837)ctC>ctT	p.L279L	CPT1C_ENST00000323446.5_Silent_p.L279L|CPT1C_ENST00000598293.1_Silent_p.L279L|CPT1C_ENST00000354199.5_Silent_p.L279L|CPT1C_ENST00000405931.2_Silent_p.L268L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	279					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCCATGCCCTCCTCCTGTACC	0.652000													21	66					0	0	0.001882	0	0
ANKRD53	79998	broad.mit.edu	37	2	71211740	71211740	+	Splice_Site	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:71211740G>C	ENST00000272421.6	+	7	1296		c.e7-1		ANKRD53_ENST00000457410.1_Splice_Site|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000360589.3_Splice_Site|ANKRD53_ENST00000441349.1_Splice_Site	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53											endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TGTTGTTGCAGAAAGAGCACA	0.547000											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	99					0	0	0.001984	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716792	151716792	+	Missense_Mutation	SNP	G	G	A	rs149825214	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:151716792G>A	ENST00000392800.2	+	9	1492	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R413H	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	413						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATTCGCGAGCGTGTTGAGTTA	0.423000													6	53					0	0	0.001984	0	0
CHD6	84181	broad.mit.edu	37	20	40045305	40045305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:40045305G>A	ENST00000373233.3	-	33	6586	c.6409C>T	c.(6409-6411)Cga>Tga	p.R2137*		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2137					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.R2137*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGCTGGTTCGAGAACCAGCA	0.587000													5	88					0	0	0.001168	0	0
KCNH7	90134	broad.mit.edu	37	2	163253401	163253401	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:163253401G>C	ENST00000332142.5	-	11	2561	c.2462C>G	c.(2461-2463)tCt>tGt	p.S821C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	821					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCTGCATTAGACTTTCCAGG	0.373000													15	31					0	0	0.004007	0	0
COLGALT2	23127	broad.mit.edu	37	1	184006371	184006371	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:184006371C>T	ENST00000361927.4	-	1	492	c.121G>A	c.(121-123)Gag>Aag	p.E41K	COLGALT2_ENST00000546159.1_Missense_Mutation_p.E41K	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		ACCACCGGCTCCTCTCCGTCG	0.721000													4	14					0	0	0.000248	0	0
UBE3A	7337	broad.mit.edu	37	15	25620732	25620732	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:25620732C>T	ENST00000232165.3	-	5	897	c.241G>A	c.(241-243)Gat>Aat	p.D81N	UBE3A_ENST00000397954.2_Missense_Mutation_p.D84N|UBE3A_ENST00000438097.1_Missense_Mutation_p.D61N|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.D61N|UBE3A_ENST00000566215.1_Missense_Mutation_p.D61N	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	84					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GGATGAGGATCACAGAGTTTT	0.423000													12	42					0	0	0.000978	0	0
CAPN15	6650	broad.mit.edu	37	16	597026	597026	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:597026C>T	ENST00000219611.2	+	4	551	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_005632.2	NP_005623.1			calpain 15																		GGCAAGGAGGCCTGCGAGGTG	0.692000													5	25					0	0	0.000602	0	0
ZNF512B	57473	broad.mit.edu	37	20	62597952	62597952	+	Silent	SNP	G	G	A	rs143583869	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:62597952G>A	ENST00000450537.1	-	5	636	c.576C>T	c.(574-576)atC>atT	p.I192I	ZNF512B_ENST00000369888.1_Silent_p.I192I|ZNF512B_ENST00000217130.3_Silent_p.I192I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCTCACTCCGATGGGCTTGC	0.612000													43	105					0	0	0.007835	0	0
MCM9	254394	broad.mit.edu	37	6	119252640	119252640	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:119252640G>A	ENST00000316316.6	-	2	535	c.249C>T	c.(247-249)tcC>tcT	p.S83S	MCM9_ENST00000316068.3_Silent_p.S83S	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	83					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GCTGAGAAAGGGACTGGAGAA	0.423000													7	28					0	0	0.003080	0	0
ZNF451	26036	broad.mit.edu	37	6	57012646	57012646	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:57012646C>T	ENST00000370706.4	+	10	2007	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L	RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S588L|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S588L|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGCCTTCATCAGCTATTACT	0.393000													15	62					0	0	0.003163	0	0
ZNF175	7728	broad.mit.edu	37	19	52090088	52090088	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:52090088C>A	ENST00000262259.2	+	5	862	c.504C>A	c.(502-504)aaC>aaA	p.N168K	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	168					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AAACATTGAACACAGAAAGCA	0.413000													18	49					3.32936e-07	5.79526e-07	0.006122	1	0
OR6C76	390326	broad.mit.edu	37	12	55820433	55820433	+	Silent	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:55820433C>A	ENST00000328314.3	+	1	396	c.396C>A	c.(394-396)atC>atA	p.I132I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATACAACCATCATGAGTGACA	0.433000													22	108					3.76869e-24	6.86474e-24	0.001523	1	0
UTS2	10911	broad.mit.edu	37	1	7913473	7913473	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:7913473G>T	ENST00000054668.5	-	1	18	c.19C>A	c.(19-21)Cat>Aat	p.H7N	UTS2_ENST00000377516.2_5'UTR	NM_021995.2	NP_068835.1	O95399	UTS2_HUMAN	urotensin 2	101					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGCATAAGATGAAATACGTTG	0.413000													6	46					3.09899e-07	5.40689e-07	0.004482	1	0
FLRT3	23767	broad.mit.edu	37	20	14307152	14307152	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:14307152C>T	ENST00000378053.3	-	2	1257	c.1001G>A	c.(1000-1002)tGc>tAc	p.C334Y	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.C334Y	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	334	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGGGGCTTGGCACATGAGCCC	0.473000													22	87					0	0	0.001523	0	0
RPAIN	84268	broad.mit.edu	37	17	5323530	5323530	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:5323530G>A	ENST00000381209.3	+	0	570				RPAIN_ENST00000327154.6_De_novo_Start_InFrame|RPAIN_ENST00000574003.1_De_novo_Start_InFrame|RPAIN_ENST00000536255.2_De_novo_Start_InFrame|RPAIN_ENST00000405578.4_De_novo_Start_InFrame|RPAIN_ENST00000381208.5_De_novo_Start_InFrame	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein						DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						GCGAAGAGGAGATGGCGGAGT	0.632000													4	26					0	0	0.000248	0	0
GAS2L1	10634	broad.mit.edu	37	22	29706633	29706633	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:29706633G>C	ENST00000471961.1	+	3	1795	c.747G>C	c.(745-747)ctG>ctC	p.L249L	GAS2L1_ENST00000406549.3_Silent_p.L249L|GAS2L1_ENST00000360113.2_Silent_p.L249L|GAS2L1_ENST00000341313.6_Silent_p.L249L|GAS2L1_ENST00000403764.1_Silent_p.L249L|GAS2L1_ENST00000407647.2_Silent_p.L249L|GAS2L1_ENST00000407854.1_Silent_p.L249L			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	249	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TGCAGGTGCTGAGGAGCCACG	0.711000													4	16					0	0	0.000248	0	0
CAMK2G	818	broad.mit.edu	37	10	75608802	75608802	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:75608802G>C	ENST00000423381.1	-	7	609	c.486C>G	c.(484-486)atC>atG	p.I162M	CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000322635.3_Missense_Mutation_p.I162M|CAMK2G_ENST00000394762.2_Missense_Mutation_p.I162M|CAMK2G_ENST00000372765.1_Missense_Mutation_p.I162M|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Missense_Mutation_p.I162M|CAMK2G_ENST00000351293.3_Missense_Mutation_p.I162M|CAMK2G_ENST00000305762.7_Missense_Mutation_p.I162M	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	162	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CCTGTACTTCGATGGCTAGGC	0.562000											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	111					0	0	0.000248	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6086667	6086667	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:6086667C>G	ENST00000199389.6	-	5	651	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.E45Q	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	169	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	p.E169K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ATGGCAAGTTCTTCAAATTCA	0.348000													7	23					0	0	0.004482	0	0
MARCH8	220972	broad.mit.edu	37	10	45956749	45956749	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:45956749G>A	ENST00000453424.2	-	6	1460	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	MARCH8_ENST00000319836.3_Missense_Mutation_p.S118F|MARCH8_ENST00000395771.3_Missense_Mutation_p.S118F|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.S118F			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	118						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.S118F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GCGCGTGTCGGAGCTCTTGAT	0.572000													5	45					0	0	0.001168	0	0
LAMA2	3908	broad.mit.edu	37	6	129687405	129687405	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:129687405G>T	ENST00000421865.2	+	33	4808	c.4759G>T	c.(4759-4761)Gct>Tct	p.A1587S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1587	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGGTGACTTGGCTCGCCTGGA	0.478000													16	52					6.94344e-10	1.22871e-09	0.006122	1	0
PPFIA1	8500	broad.mit.edu	37	11	70208451	70208451	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:70208451G>A	ENST00000253925.7	+	21	2937	c.2722G>A	c.(2722-2724)Ggg>Agg	p.G908R	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.G908R	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	908	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGTGAAAAGCGGGGCCATCAT	0.607000													24	142					0	0	0.002299	0	0
KCNT2	343450	broad.mit.edu	37	1	196309572	196309572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:196309572G>T	ENST00000367433.5	-	16	1783	c.1682C>A	c.(1681-1683)tCa>tAa	p.S561*	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.S561*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.S172*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.S511*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	561						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S561L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTAAATGCTGAATTCTCTTC	0.358000													8	37					3.09899e-07	5.40689e-07	0.004482	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35917293	35917293	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:35917293G>T	ENST00000325722.3	-	13	2232	c.1998C>A	c.(1996-1998)acC>acA	p.T666T	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.T103T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	666	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGACAGTCAAGGTGAACACAT	0.498000											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	129					1.61572e-30	2.95028e-30	0.002522	1	0
CXorf22	170063	broad.mit.edu	37	X	35974178	35974178	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:35974178C>T	ENST00000297866.5	+	8	1341	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	425										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACCTTGTTTCATGGGTGAAC	0.363000													17	15					0	0	0.004990	0	0
SARM1	23098	broad.mit.edu	37	17	26711532	26711532	+	Missense_Mutation	SNP	G	G	A	rs147156050	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:26711532G>A	ENST00000457710.3	+	3	1615	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	416					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAGGAGGCCGAGGTTCAGAC	0.677000													7	30					0	0	0.001984	0	0
LAYN	143903	broad.mit.edu	37	11	111428359	111428359	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:111428359G>A	ENST00000436913.2	+	5	718	c.317G>A	c.(316-318)tGt>tAt	p.C106Y	LAYN_ENST00000525126.1_Missense_Mutation_p.C259Y|LAYN_ENST00000375614.2_Missense_Mutation_p.C251Y|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000533265.1_Missense_Mutation_p.C251Y|LAYN_ENST00000375615.3_Missense_Mutation_p.C259Y	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	259	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GTTTGGATCTGTAGAAAAAGG	0.433000													40	422					0	0	0.002522	0	0
FKBP2	2286	broad.mit.edu	37	11	64009964	64009964	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:64009964C>G	ENST00000394540.3	+	2	575	c.105C>G	c.(103-105)gtC>gtG	p.V35V	FKBP2_ENST00000449942.2_Silent_p.V35V|FKBP2_ENST00000309366.4_Silent_p.V35V	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	35					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						AGATCGGGGTCAAGAAGCGGG	0.632000													7	76					0	0	0.001984	0	0
SCPEP1	59342	broad.mit.edu	37	17	55075841	55075841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:55075841G>T	ENST00000262288.3	+	10	1031	c.976G>T	c.(976-978)Gag>Tag	p.E326*		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	326					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AATTATTCCTGAGGATCAATC	0.438000													23	59					5.35356e-11	9.49619e-11	0.002780	1	0
ABCA4	24	broad.mit.edu	37	1	94512578	94512578	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:94512578C>G	ENST00000370225.3	-	19	2901	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.E865Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	939	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGGGCTCAAAAATCTTT	0.507000													15	236					0	0	0.004007	0	0
ZNF543	125919	broad.mit.edu	37	19	57840200	57840200	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:57840200G>C	ENST00000321545.4	+	4	1715	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGAATGTGGAAAAGCCTTT	0.488000													15	52					0	0	0.002450	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055532	72055532	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:72055532G>A	ENST00000555818.1	+	2	1291	c.943G>A	c.(943-945)Gat>Aat	p.D315N	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D315N|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D315N	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	315					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGATCTTGAAGATAACCGATC	0.408000													14	50					0	0	0.001855	0	0
FAM131A	131408	broad.mit.edu	37	3	184060556	184060556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:184060556C>T	ENST00000310585.4	+	2	1804	c.440C>T	c.(439-441)gCg>gTg	p.A147V	FAM131A_ENST00000340957.5_Missense_Mutation_p.A93V|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Missense_Mutation_p.A55V|FAM131A_ENST00000453072.1_Missense_Mutation_p.A93V|FAM131A_ENST00000383847.2_Missense_Mutation_p.A178V|FAM131A_ENST00000450976.1_Missense_Mutation_p.A93V			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	147						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGCCATCGCGGAAGCCAAG	0.557000													12	40					0	0	0.000978	0	0
GSDMB	55876	broad.mit.edu	37	17	38066128	38066128	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:38066128C>G	ENST00000394175.2	-	3	680	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	GSDMB_ENST00000520542.1_Missense_Mutation_p.E153Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.E153Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.E153Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.E153Q|GSDMB_ENST00000394179.1_Missense_Mutation_p.E153Q	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	153						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TACAGGTTTTCTCTCGTATTA	0.473000													20	60					0	0	0.001882	0	0
FBXO10	26267	broad.mit.edu	37	9	37531963	37531963	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:37531963A>C	ENST00000432825.2	-	4	1560	c.1512T>G	c.(1510-1512)atT>atG	p.I504M	FBXO10_ENST00000543968.1_5'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.I29M	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	504						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CATTGTGGTAAATGTTGTTGC	0.502000													15	45					0	0	0.004007	0	0
CPSF1	29894	broad.mit.edu	37	8	145623786	145623786	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:145623786G>A	ENST00000349769.3	-	19	1894	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	600					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTGAGTGGCGAAGCCACTGG	0.657000													6	181					0	0	0.001984	0	0
AKAP6	9472	broad.mit.edu	37	14	33147558	33147558	+	Silent	SNP	T	T	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:33147558T>G	ENST00000280979.4	+	8	2942	c.2772T>G	c.(2770-2772)gcT>gcG	p.A924A	AKAP6_ENST00000557354.1_Silent_p.A924A|AKAP6_ENST00000557272.1_Silent_p.A924A	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	924					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGAGATGCTGTTGAGCAGA	0.438000													4	23					0	0	0.000602	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	47					0	0	0.000248	0	0
LIMK2	3985	broad.mit.edu	37	22	31654293	31654293	+	Missense_Mutation	SNP	G	G	A	rs35923988		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:31654293G>A	ENST00000331728.4	+	3	247	c.133G>A	c.(133-135)Gat>Aat	p.D45N	LIMK2_ENST00000333611.4_Missense_Mutation_p.D24N|LIMK2_ENST00000340552.4_Missense_Mutation_p.D24N|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_5'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	45	LIM zinc-binding 1.		D -> N (in dbSNP:rs35923988).			mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGAATGCCAGGATTCCCTCAC	0.517000													15	64					0	0	0.004007	0	0
RBL1	5933	broad.mit.edu	37	20	35696531	35696531	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:35696531C>G	ENST00000373664.3	-	3	415	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	RBL1_ENST00000344359.3_Missense_Mutation_p.E117Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	117					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCACGAAATTCTTGTGGTAGA	0.279000													7	16					0	0	0.004482	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368572	145368572	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:145368572C>G	ENST00000342960.5	+	84	10585	c.10550C>G	c.(10549-10551)tCa>tGa	p.S3517*	NBPF10_ENST00000369338.1_Nonsense_Mutation_p.S633*|NBPF10_ENST00000369339.2_Nonsense_Mutation_p.S635*	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3517										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGTTTTACTCATTTGAGGAA	0.443000													7	542					0	0	0.001984	0	0
NAA25	80018	broad.mit.edu	37	12	112492367	112492367	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:112492367C>T	ENST00000261745.4	-	14	1701	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	485						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACAGTGGTCTCATCACCTAGA	0.433000													9	15					0	0	0.004482	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224729	26224729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:26224729G>T	ENST00000056233.3	+	4	1670	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	471					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CTACTACCCAGAACCCAGTAA	0.428000													27	97					6.32553e-13	1.1274e-12	0.004656	1	0
SETBP1	26040	broad.mit.edu	37	18	42531993	42531993	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:42531993C>T	ENST00000282030.5	+	4	2984	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	896						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTTTTGATTTCTGCTCCCTGG	0.557000									Schinzel-Giedion syndrome				12	24					0	0	0.000978	0	0
RUSC1	23623	broad.mit.edu	37	1	155292421	155292421	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:155292421C>G	ENST00000368352.5	+	2	1008	c.857C>G	c.(856-858)tCt>tGt	p.S286C	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S286C|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	286						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATAACTGATTCTGGCTCGAAA	0.478000													36	120					0	0	0.002522	0	0
HES6	55502	broad.mit.edu	37	2	239148343	239148343	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:239148343C>G	ENST00000409160.3	-	2	259	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	HES6_ENST00000409182.1_Intron|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409574.1_Missense_Mutation_p.E43Q|HES6_ENST00000272937.5_Missense_Mutation_p.E43Q|HES6_ENST00000409356.1_Silent_p.T68T|HES6_ENST00000409002.3_Missense_Mutation_p.E43Q	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	43	Helix-loop-helix motif.				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCAGGCTCTCGTTGATCCGC	0.791000													2	9					0	0	0.004672	0	0
TREM2	54209	broad.mit.edu	37	6	41126780	41126780	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:41126780G>A	ENST00000373122.4	-	4	567	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	TREM2_ENST00000373113.3_Silent_p.P169P|TREM2_ENST00000338469.3_Intron			Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGTGGGAAGGGGATTTCTC	0.547000													6	15					0	0	0.001984	0	0
AGAP2	116986	broad.mit.edu	37	12	58128428	58128428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:58128428G>A	ENST00000257897.3	-	3	339	c.254C>T	c.(253-255)tCg>tTg	p.S85L	AGAP2_ENST00000547588.1_Missense_Mutation_p.S421L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	421					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTGGATGAGCGATGACTTCCC	0.537000													51	151					0	0	0.003610	0	0
THBS4	7060	broad.mit.edu	37	5	79355723	79355723	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:79355723G>A	ENST00000350881.2	+	7	1172	c.982G>A	c.(982-984)Gat>Aat	p.D328N	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.D237N	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	328	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TATTGATGTTGATGAGGTAAA	0.507000													41	102					0	0	0.007835	0	0
UBR4	23352	broad.mit.edu	37	1	19451151	19451151	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:19451151G>C	ENST00000375267.2	-	65	9475	c.9472C>G	c.(9472-9474)Cag>Gag	p.Q3158E	UBR4_ENST00000375254.3_Missense_Mutation_p.Q3158E|UBR4_ENST00000375217.2_Missense_Mutation_p.Q3151E|UBR4_ENST00000375226.2_Missense_Mutation_p.Q3134E			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3158					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTTAGAAGCTGAGTATAGGCC	0.428000													11	58					0	0	0.008291	0	0
LMCD1	29995	broad.mit.edu	37	3	8607273	8607273	+	Silent	SNP	A	A	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:8607273A>C	ENST00000157600.3	+	5	1111	c.879A>C	c.(877-879)gcA>gcC	p.A293A	LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1_ENST00000454244.1_Silent_p.A220A|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632000													8	18					0	0	0.001855	0	0
LEKR1	389170	broad.mit.edu	37	3	156763471	156763471	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:156763471G>T	ENST00000470811.1	+	14	2434	c.1099G>T	c.(1099-1101)Gca>Tca	p.A367S	LEKR1_ENST00000356539.4_Missense_Mutation_p.A671S			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGGGGTGGAGCATCTTCAGC	0.547000													19	110					5.26018e-13	9.39768e-13	0.001882	1	0
GJA9	81025	broad.mit.edu	37	1	39340782	39340782	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:39340782G>C	ENST00000454994.2	-	2	1265	c.989C>G	c.(988-990)tCt>tGt	p.S330C	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.S330C|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.S330C			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	330					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AATCTCATTAGAAAGTACAGT	0.313000													21	48					0	0	0.001523	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803961	50803961	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:50803961C>T	ENST00000263046.4	+	5	982	c.816C>T	c.(814-816)ctC>ctT	p.L272L	TFAP2B_ENST00000393655.3_Silent_p.L263L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	263					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CTGAATGCCTCAATGCATCTC	0.458000													13	46					0	0	0.001368	0	0
SEMA6B	10501	broad.mit.edu	37	19	4554425	4554425	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:4554425G>A	ENST00000586582.1	-	9	1056	c.746C>T	c.(745-747)gCg>gTg	p.A249V	SEMA6B_ENST00000301293.3_Missense_Mutation_p.A249V|SEMA6B_ENST00000586965.1_Missense_Mutation_p.A249V	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	249	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACTCCATCGCAATCTCCCG	0.567000													7	48					0	0	0.004482	0	0
RPRD2	23248	broad.mit.edu	37	1	150437148	150437148	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:150437148G>C	ENST00000401000.4	+	9	1544	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.E493D|RPRD2_ENST00000369068.4_Missense_Mutation_p.E519D			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	519	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCACCCCAGAGAGCATTCTGT	0.517000											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	0.001984	0	0
CFAP54	144535	broad.mit.edu	37	12	97078851	97078851	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:97078851G>C	ENST00000524981.3	+	9	1202	c.1202G>C	c.(1201-1203)aGa>aCa	p.R401T				Q6ZTY8	CL063_HUMAN		375								p.R375K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GACATATTCAGAAAACCAGAC	0.433000													8	32					0	0	0.006214	0	0
COL6A2	1292	broad.mit.edu	37	21	47536580	47536580	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:47536580G>A	ENST00000300527.4	+	9	1047	c.943G>A	c.(943-945)Gac>Aac	p.D315N	COL6A2_ENST00000397763.1_Missense_Mutation_p.D315N|COL6A2_ENST00000310645.5_Missense_Mutation_p.D315N|COL6A2_ENST00000409416.1_Missense_Mutation_p.D315N|COL6A2_ENST00000357838.4_Missense_Mutation_p.D315N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	315	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATTTGGAGCCGACGGTCGCAA	0.617000													13	32					0	0	0.002450	0	0
ZNF618	114991	broad.mit.edu	37	9	116812166	116812166	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:116812166G>A	ENST00000288466.7	+	14	2404	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	ZNF618_ENST00000374126.5_Missense_Mutation_p.A862T|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	862					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGAGAACCCCGCAGCTCAGGA	0.597000													6	108					0	0	0.004482	0	0
MAZ	4150	broad.mit.edu	37	16	29821429	29821429	+	Splice_Site	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:29821429A>G	ENST00000563402.1	+	3	412		c.e3-1		AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568544.1_Silent_p.A38A|MAZ_ENST00000562337.1_Silent_p.A132A|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000322945.6_Silent_p.A437A|MAZ_ENST00000545521.1_Silent_p.A414A			P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						Tggcggcggcagcggcagcgg	0.672000													13	40					0	0	0.004007	0	0
PHF7	51533	broad.mit.edu	37	3	52454998	52454998	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:52454998G>A	ENST00000327906.3	+	7	1153	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	PHF7_ENST00000347025.2_Missense_Mutation_p.E165K|PHF7_ENST00000478707.1_Missense_Mutation_p.E165K	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	165						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CTTATGTTGTGAAGACTTATC	0.493000													32	80					0	0	0.002836	0	0
LMBRD1	55788	broad.mit.edu	37	6	70411789	70411789	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:70411789G>A	ENST00000370577.3	-	10	1201	c.972C>T	c.(970-972)ttC>ttT	p.F324F	LMBRD1_ENST00000370570.1_Silent_p.F251F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	324					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTTGACAAGAAGAGAGAAA	0.294000													4	15					0	0	0.000602	0	0
SLC25A11	8402	broad.mit.edu	37	17	4843164	4843164	+	Silent	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:4843164C>A	ENST00000225665.7	-	1	382	c.42G>T	c.(40-42)ggG>ggT	p.G14G	SLC25A11_ENST00000544061.2_Silent_p.G14G	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	14					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TACGGGGCTTCCCGTCTATCC	0.706000													4	25					1.23904e-05	2.13184e-05	0.000602	1	0
MPHOSPH8	54737	broad.mit.edu	37	13	20235942	20235942	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:20235942G>T	ENST00000361479.5	+	8	1964	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K632N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	632					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GTCGGCAGAAGAACGGGACCA	0.562000													33	76					5.91797e-21	1.07534e-20	0.002445	1	0
LRP1B	53353	broad.mit.edu	37	2	142004806	142004806	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:142004806T>C	ENST00000389484.3	-	5	1552	c.581A>G	c.(580-582)aAg>aGg	p.K194R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	194	EGF-like 2; calcium-binding (Potential).				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)		AATTTTAGCCTTGCAAGATCT	0.383000										TSP Lung(27;0.18)			7	50					0	0	0.001984	0	0
YIPF3	25844	broad.mit.edu	37	6	43481162	43481162	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:43481162G>A	ENST00000372422.2	-	5	651	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	YIPF3_ENST00000506469.1_Missense_Mutation_p.L163F	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	157					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ACCAGCATGAGAGGTCCATAG	0.478000													6	46					0	0	0.001168	0	0
TMEM14A	28978	broad.mit.edu	37	6	52541908	52541908	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:52541908T>C	ENST00000211314.4	+	2	161	c.8T>C	c.(7-9)cTg>cCg	p.L3P		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	3						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CCAATGGACCTGATCGGTTTT	0.393000													3	106					0	0	0.004672	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332011	100332011	+	RNA	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:100332011C>T	ENST00000341853.1	-	0	2180					NR_003260.1																						GATGCACTCTCTGAGGCCCCA	0.542000													8	36					0	0	0.003080	0	0
WDSUB1	151525	broad.mit.edu	37	2	160104982	160104982	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:160104982C>T	ENST00000409990.3	-	10	1430	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000392796.3_Missense_Mutation_p.E392K|WDSUB1_ENST00000359774.4_Missense_Mutation_p.E392K|WDSUB1_ENST00000358147.4_Missense_Mutation_p.E300K	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	392	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTCCTGAGCTCTTCAATTTTC	0.388000													7	53					0	0	0.001984	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95155231	95155231	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:95155231G>C	ENST00000354268.4	+	4	568	c.495G>C	c.(493-495)ttG>ttC	p.L165F	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L165F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	165	CUE 1.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ttcagactttgaaggaacttt	0.373000													8	18					0	0	0.003080	0	0
MTFMT	123263	broad.mit.edu	37	15	65316055	65316055	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:65316055C>T	ENST00000220058.4	-	3	510	c.497G>A	c.(496-498)gGa>gAa	p.G166E	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	166						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AACTGTGTCTCCGTGAAGCAC	0.398000													6	27					0	0	0.001984	0	0
WIPI2	26100	broad.mit.edu	37	7	5232766	5232766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:5232766C>G	ENST00000288828.4	+	2	324	c.92C>G	c.(91-93)tCa>tGa	p.S31*	WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000404704.3_Nonsense_Mutation_p.S31*	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	31					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AAAGGGGCATCAAGAGCAGCT	0.388000													8	98					0	0	0.006214	0	0
TDGF1	6997	broad.mit.edu	37	3	46620773	46620773	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:46620773G>C	ENST00000296145.5	+	3	873	c.140G>C	c.(139-141)aGa>aCa	p.R47T	TDGF1_ENST00000542931.1_Missense_Mutation_p.R31T|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	47					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGGCCTTCAGAGATGACAGC	0.527000													7	33					0	0	0.001984	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607429	84607429	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:84607429G>A	ENST00000344803.2	+	4	2091	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ACTCAGCTCTGAGGTAAGGAA	0.507000													15	85					0	0	0.003163	0	0
THUMPD2	80745	broad.mit.edu	37	2	39997221	39997221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:39997221C>T	ENST00000505747.1	-	3	328	c.301G>A	c.(301-303)Gat>Aat	p.D101N	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71N|THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71N	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	101							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTTCCTGGATCTTCATTTATA	0.289000													5	36					0	0	0.001984	0	0
HPS3	84343	broad.mit.edu	37	3	148858878	148858878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:148858878G>T	ENST00000296051.2	+	3	927	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.E98*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	263						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACTTCTTGGTGAAAAAAGTGA	0.383000									Hermansky-Pudlak syndrome				13	73					2.27111e-07	3.98112e-07	0.001368	1	0
FAM46C	54855	broad.mit.edu	37	1	118166279	118166279	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:118166279C>G	ENST00000369448.3	+	2	1036	c.789C>G	c.(787-789)atC>atG	p.I263M		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	263										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGGAAGAAATCAAAACTCTAG	0.507000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			14	38					0	0	0.001855	0	0
PPDPF	79144	broad.mit.edu	37	20	62153084	62153084	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:62153084C>T	ENST00000370179.3	+	4	393	c.197C>T	c.(196-198)cCg>cTg	p.P66L	PPDPF_ENST00000370177.1_Missense_Mutation_p.P92L|PPDPF_ENST00000473620.1_3'UTR	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	66					cell differentiation|multicellular organismal development					kidney(1)|lung(2)|ovary(1)	4						TCCACCCTCCCGTTCATGGCC	0.642000													15	42					0	0	0.004007	0	0
MIOX	55586	broad.mit.edu	37	22	50927676	50927676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:50927676C>T	ENST00000395732.3	+	7	560	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	MIOX_ENST00000216075.6_Nonsense_Mutation_p.Q180*|MIOX_ENST00000395733.3_Silent_p.I190I			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	180					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGATGTATCAGCCCCACTG	0.697000													4	17					0	0	0.000248	0	0
RARB	5915	broad.mit.edu	37	3	25634998	25634998	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:25634998T>G	ENST00000330688.4	+	6	1212	c.791T>G	c.(790-792)cTt>cGt	p.L264R	RARB_ENST00000437042.2_Missense_Mutation_p.L152R|RARB_ENST00000462272.1_Intron|RARB_ENST00000404969.1_Missense_Mutation_p.L271R|RARB_ENST00000458646.1_Missense_Mutation_p.L152R	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	271	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TTCCAGATTCTTAGAATTTGC	0.408000													14	26					0	0	0.002450	0	0
GPR132	29933	broad.mit.edu	37	14	105518119	105518119	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:105518119C>T	ENST00000329797.3	-	4	1266	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.A119T|GPR132_ENST00000392585.2_Missense_Mutation_p.A110T	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	119					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AAGATGTAGGCGGTCACCTTG	0.607000													14	212					0	0	0.003163	0	0
PCNX	22990	broad.mit.edu	37	14	71576247	71576247	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:71576247C>T	ENST00000304743.2	+	35	7269	c.6823C>T	c.(6823-6825)Cgg>Tgg	p.R2275W	PCNX_ENST00000238570.5_Missense_Mutation_p.R2203W|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.R2164W	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2275						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGAAGGAATCCGGTTAAAAGC	0.473000													12	47					0	0	0.001368	0	0
SLFN12	55106	broad.mit.edu	37	17	33738501	33738501	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:33738501C>T	ENST00000394562.1	-	6	2116	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Silent_p.L531L|SLFN12_ENST00000304905.5_Silent_p.L531L			Q8IYM2	SLN12_HUMAN	schlafen family member 12	531							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAGGGCTTTCAGCAAGTATT	0.388000													15	60					0	0	0.003163	0	0
KCND3	3752	broad.mit.edu	37	1	112524371	112524371	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:112524371G>A	ENST00000369697.1	-	1	1047	c.978C>T	c.(976-978)ttC>ttT	p.F326F	KCND3_ENST00000315987.2_Silent_p.F326F|KCND3_ENST00000302127.4_Silent_p.F326F			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	326						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGTGAGGGAGAAGAGAAGAA	0.552000													9	47					0	0	0.004482	0	0
POTEF	728378	broad.mit.edu	37	2	130877784	130877784	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:130877784C>T	ENST00000357462.5	-	1	398	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	POTEF_ENST00000409914.2_Missense_Mutation_p.C102Y|POTEF_ENST00000360967.5_Missense_Mutation_p.C102Y|POTEF_ENST00000361163.4_Missense_Mutation_p.C102Y			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	102						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGTGGCAGCACCACTTGCC	0.607000													36	258					0	0	0.002852	0	0
ZNF284	342909	broad.mit.edu	37	19	44590114	44590114	+	Silent	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:44590114C>A	ENST00000421176.3	+	5	699	c.483C>A	c.(481-483)atC>atA	p.I161I	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATGTCTCCATCCTTGATCTTC	0.408000													8	23					0.000157383	0.000267695	0.003080	1	0
CHPF	79586	broad.mit.edu	37	2	220408002	220408002	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220408002G>A	ENST00000243776.6	-	1	507	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	CHPF_ENST00000373891.2_Missense_Mutation_p.R87C	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	87						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCAAGACGCGCGGCTCCCAA	0.746000													5	25					0	0	0.000602	0	0
ELFN1	392617	broad.mit.edu	37	7	1785470	1785470	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:1785470C>G	ENST00000424383.2	+	3	1725	c.1238C>G	c.(1237-1239)tCc>tGc	p.S413C	ELFN1_ENST00000561626.1_Missense_Mutation_p.S413C|ELFN1_ENST00000541472.1_Missense_Mutation_p.S413C					extracellular leucine-rich repeat and fibronectin type III domain containing 1											endometrium(1)	1						CCCAGCCCCTCCACGGCCACC	0.706000													2	6					0	0	0.004672	0	0
CDH3	1001	broad.mit.edu	37	16	68712542	68712542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:68712542G>T	ENST00000264012.4	+	5	1073	c.529G>T	c.(529-531)Gag>Tag	p.E177*	CDH3_ENST00000581171.1_Nonsense_Mutation_p.E122*|CDH3_ENST00000429102.2_Nonsense_Mutation_p.E177*	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	177	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGACCGGGAGGAGATTGCCAA	0.582000													17	83					2.48551e-13	4.45121e-13	0.004990	1	0
DAZL	1618	broad.mit.edu	37	3	16630195	16630195	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:16630195C>T	ENST00000250863.8	-	11	1207	c.920G>A	c.(919-921)aGa>aAa	p.R307K	DAZL_ENST00000399444.2_Missense_Mutation_p.R287K	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	287					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TGCCCGACTTCTTCTAAAGTG	0.343000													4	127					0	0	0.000248	0	0
ZC3H18	124245	broad.mit.edu	37	16	88665043	88665043	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:88665043G>A	ENST00000301011.5	+	5	1053	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D309N	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	285	Pro-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCGGTAGTTGATGAAATTTT	0.468000													5	13					0	0	0.001168	0	0
ERN2	10595	broad.mit.edu	37	16	23706160	23706160	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:23706160G>A	ENST00000256797.4	-	17	2301	c.2133C>T	c.(2131-2133)ctC>ctT	p.L711L	ERN2_ENST00000457008.2_Silent_p.L611L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	663	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTTCTTGCAGAGGCCGAAGT	0.647000													10	31					0	0	0.008291	0	0
OR2L8	391190	broad.mit.edu	37	1	248112521	248112521	+	Missense_Mutation	SNP	G	G	A	rs148005952	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:248112521G>A	ENST00000357191.3	+	1	362	c.362G>A	c.(361-363)cGt>cAt	p.R121H	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCTATGATCGTTACATTGCT	0.443000													38	153					0	0	0.004289	0	0
ELF1	1997	broad.mit.edu	37	13	41517197	41517197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:41517197G>A	ENST00000239882.3	-	7	1011	c.697C>T	c.(697-699)Cga>Tga	p.R233*	ELF1_ENST00000442101.1_Nonsense_Mutation_p.R209*|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	233					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCTTTCTCTCGCTGGGTCCAC	0.408000													16	46					0	0	0.004990	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81063878	81063878	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:81063878C>T	ENST00000334512.5	+	19	2804	c.2232C>T	c.(2230-2232)atC>atT	p.I744I		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	744					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGTGCCCCATCACATTCCGGC	0.612000													10	33					0	0	0.008291	0	0
LAMA5	3911	broad.mit.edu	37	20	60897442	60897442	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:60897442C>T	ENST00000252999.3	-	47	6295	c.6229G>A	c.(6229-6231)Gag>Aag	p.E2077K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2077	Laminin EGF-like 21.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGGAGCCCTCGGCGGCCGGT	0.706000													4	14					0	0	0.000248	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34033476	34033476	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:34033476C>G	ENST00000382065.3	-	3	1209	c.503G>C	c.(502-504)cGa>cCa	p.R168P	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.R95P	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	95	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CCGCTCCCCTCGAGGCCCCAG	0.562000													21	64					0	0	0.008871	0	0
WDR31	114987	broad.mit.edu	37	9	116079162	116079162	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:116079162C>G	ENST00000374193.4	-	11	1217	c.971G>C	c.(970-972)gGa>gCa	p.G324A	WDR31_ENST00000341761.4_Missense_Mutation_p.G323A|WDR31_ENST00000374195.3_Missense_Mutation_p.G199A|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	324										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGGTCCTGATCCATCCAGAGA	0.483000													17	32					0	0	0.004007	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23563387	23563387	+	RNA	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrY:23563387C>G	ENST00000444169.1	-	0	61					NR_001574.2																						CCATGTTTCTCAAATACTGCT	0.388000													7	8					0	0	0.004482	0	0
ABCF2	10061	broad.mit.edu	37	7	150920888	150920888	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:150920888C>T	ENST00000287844.2	-	5	707	c.598G>A	c.(598-600)Gat>Aat	p.D200N	ABCF2_ENST00000222388.2_Missense_Mutation_p.D200N	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	200	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTCGGCATCCAGCTCCTCC	0.602000													10	14					0	0	0.008291	0	0
MYO5A	4644	broad.mit.edu	37	15	52620057	52620057	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:52620057C>G	ENST00000399231.3	-	35	4870	c.4627G>C	c.(4627-4629)Gta>Cta	p.V1543L	MYO5A_ENST00000399233.2_Missense_Mutation_p.V1540L|MYO5A_ENST00000553916.1_Missense_Mutation_p.V1541L|MYO5A_ENST00000358212.6_Missense_Mutation_p.V1568L|MYO5A_ENST00000356338.6_Missense_Mutation_p.V1516L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1543	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACCTTCAATACTTTTTTGATG	0.368000													26	102					0	0	0.007291	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081778	143081778	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:143081778C>T	ENST00000367603.2	-	9	6389	c.5647G>A	c.(5647-5649)Gca>Aca	p.A1883T	HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1883T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1883T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCTTCTCTGCTGCTTTGTGC	0.368000													4	14					0	0	0.000248	0	0
WDR72	256764	broad.mit.edu	37	15	53809925	53809925	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:53809925C>A	ENST00000396328.1	-	20	3519	c.3280G>T	c.(3280-3282)Gca>Tca	p.A1094S	WDR72_ENST00000557913.1_Missense_Mutation_p.A1091S|WDR72_ENST00000559418.1_Missense_Mutation_p.A1104S|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000360509.5_Missense_Mutation_p.A1094S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1094										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAGACCTTTGCTATCCATGAA	0.383000													6	81					2.0095e-06	3.48157e-06	0.001984	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	58					0	0	0.000248	0	0
PLCL1	5334	broad.mit.edu	37	2	198950579	198950579	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:198950579G>A	ENST00000428675.1	+	2	2736	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E682K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	780	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TATTTTTGATGAAACTTTTGA	0.388000													18	75					0	0	0.006122	0	0
LIMK2	3985	broad.mit.edu	37	22	31654368	31654368	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:31654368G>A	ENST00000331728.4	+	3	322	c.208G>A	c.(208-210)Gag>Aag	p.E70K	LIMK2_ENST00000333611.4_Missense_Mutation_p.E49K|LIMK2_ENST00000340552.4_Missense_Mutation_p.E49K|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_5'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	70						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAAGTTTGGGGAGTTCTGTCA	0.522000													17	53					0	0	0.004007	0	0
ZBTB12	221527	broad.mit.edu	37	6	31867996	31867996	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:31867996G>A	ENST00000375527.2	-	2	1262	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TTGCCACAGCGAGGGCACATG	0.562000													20	65					0	0	0.001523	0	0
PSMB5	5693	broad.mit.edu	37	14	23495350	23495350	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:23495350G>C	ENST00000361611.6	-	3	1003	c.740C>G	c.(739-741)tCc>tGc	p.S247C	PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000460922.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.S144C	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	ATTGTCACTGGAGACTCGGAT	0.552000													4	158					0	0	0.000248	0	0
NDST2	8509	broad.mit.edu	37	10	75567373	75567373	+	Silent	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:75567373A>G	ENST00000299641.4	-	4	1375	c.405T>C	c.(403-405)cgT>cgC	p.R135R	NDST2_ENST00000309979.6_Silent_p.R258R	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	258	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GCCGGGCCCGACGAAGAACTG	0.557000													8	36					0	0	0.003080	0	0
MTMR6	9107	broad.mit.edu	37	13	25842002	25842002	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:25842002C>G	ENST00000381801.5	-	3	980	c.219G>C	c.(217-219)aaG>aaC	p.K73N	MTMR6_ENST00000540661.1_Missense_Mutation_p.K73N	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	73						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTCTGAAGTTCTTGCACTGTA	0.393000													12	29					0	0	0.000978	0	0
SYNE3	161176	broad.mit.edu	37	14	95932570	95932570	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:95932570C>T	ENST00000334258.5	-	3	339	c.325G>A	c.(325-327)Gag>Aag	p.E109K	SYNE3_ENST00000557275.1_Missense_Mutation_p.E109K|SYNE3_ENST00000553340.1_Missense_Mutation_p.E109K	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CACACCCACTCGATGCGGCTG	0.617000													12	73					0	0	0.001855	0	0
RELN	5649	broad.mit.edu	37	7	103137182	103137182	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:103137182T>C	ENST00000428762.1	-	56	9143	c.8984A>G	c.(8983-8985)tAc>tGc	p.Y2995C	RELN_ENST00000343529.5_Missense_Mutation_p.Y2995C|RELN_ENST00000424685.2_Missense_Mutation_p.Y2995C|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2995					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTATTTCTGGTAATCCATCTC	0.418000													12	47					0	0	0.000978	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45671764	45671764	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:45671764C>G	ENST00000359600.5	-	1	464	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	87							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGATCCGCTCGAAGCGCTCC	0.672000													11	36					0	0	0.008291	0	0
THUMPD2	80745	broad.mit.edu	37	2	39997224	39997224	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:39997224C>T	ENST00000505747.1	-	3	325	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Missense_Mutation_p.E70K|THUMPD2_ENST00000260619.6_Missense_Mutation_p.E70K	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	100							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CCTGGATCTTCATTTATAAGT	0.299000													5	35					0	0	0.001984	0	0
VPS53	55275	broad.mit.edu	37	17	530477	530477	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:530477C>T	ENST00000437048.2	-	10	1057	c.911G>A	c.(910-912)cGc>cAc	p.R304H	VPS53_ENST00000401468.3_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.R304H|VPS53_ENST00000446250.2_Missense_Mutation_p.R106H|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.R275H|VPS53_ENST00000574029.1_Intron	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	304					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGGAAACATGCGGCCGTATTT	0.498000													20	53					0	0	0.008871	0	0
ABCB4	5244	broad.mit.edu	37	7	87069132	87069132	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:87069132C>T	ENST00000265723.4	-	14	1693	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	ABCB4_ENST00000358400.3_Missense_Mutation_p.E528K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E528K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E528K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E528K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	528	ABC transporter 1.		E -> D (in dbSNP:rs8187797).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCCCCTCTCTCTCCAACCAGG	0.478000													26	75					0	0	0.007291	0	0
ZNF536	9745	broad.mit.edu	37	19	30934667	30934667	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:30934667G>A	ENST00000355537.3	+	2	345	c.198G>A	c.(196-198)gaG>gaA	p.E66E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCTGGAGGAGAAGGCCCACG	0.687000													14	48					0	0	0.003163	0	0
FLG	2312	broad.mit.edu	37	1	152277823	152277823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:152277823G>A	ENST00000368799.1	-	3	9574	c.9539C>T	c.(9538-9540)tCa>tTa	p.S3180L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3180	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGTGACACTGAGTG	0.562000									Ichthyosis				100	139					0	0	0.003610	0	0
STRA8	346673	broad.mit.edu	37	7	134916760	134916760	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:134916760C>G	ENST00000275764.3	+	1	30	c.30C>G	c.(28-30)ctC>ctG	p.L10L		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	10					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ACAAGATCCTCTTTTTCAATC	0.488000													16	71					0	0	0.006122	0	0
SOCS5	9655	broad.mit.edu	37	2	46986960	46986960	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:46986960G>C	ENST00000306503.5	+	2	1463	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.E431Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	431	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGCCCGAATTGAGCAGTGGAA	0.493000													32	87					0	0	0.002445	0	0
TTC3	7267	broad.mit.edu	37	21	38520891	38520891	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:38520891C>G	ENST00000399017.2	+	23	4809	c.2062C>G	c.(2062-2064)Cac>Gac	p.H688D	TTC3_ENST00000540756.1_Missense_Mutation_p.H378D|TTC3_ENST00000355666.1_Missense_Mutation_p.H688D|TTC3_ENST00000354749.2_Missense_Mutation_p.H688D|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	688					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AATAGAATTTCACATGAATTG	0.308000													24	86					0	0	0.006320	0	0
ZFP36L2	678	broad.mit.edu	37	2	43451806	43451806	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:43451806C>T	ENST00000282388.3	-	2	1430	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	379					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AGTTGTGGGTCTGGATGGCGA	0.751000													6	14					0	0	0.001984	0	0
PVRL2	5819	broad.mit.edu	37	19	45391518	45391518	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:45391518A>G	ENST00000252483.5	+	9	1499	c.1499A>G	c.(1498-1500)gAg>gGg	p.E500G	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	500					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		gaggagggggaggaggaggaa	0.577000													10	49					0	0	0.000978	0	0
HCN2	610	broad.mit.edu	37	19	603773	603773	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:603773C>T	ENST00000251287.2	+	2	915	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	288					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTATCTGCGCACGTGGTT	0.547000													7	66					0	0	0.001984	0	0
ZNF540	163255	broad.mit.edu	37	19	38102931	38102931	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:38102931G>C	ENST00000592533.1	+	5	1082	c.750G>C	c.(748-750)aaG>aaC	p.K250N	ZNF540_ENST00000589117.1_Missense_Mutation_p.K218N|ZNF540_ENST00000343599.5_Missense_Mutation_p.K250N|ZNF540_ENST00000316433.4_Missense_Mutation_p.K250N	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAGACCTTTACTC	0.353000													7	34					0	0	0.003080	0	0
EPX	8288	broad.mit.edu	37	17	56276417	56276417	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:56276417G>A	ENST00000225371.5	+	8	1247	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCGATCAACGGAAACCCCCA	0.567000													8	20					0	0	0.003080	0	0
ZNF839	55778	broad.mit.edu	37	14	102805529	102805529	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:102805529G>A	ENST00000262236.5	+	7	1903	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	ZNF839_ENST00000558850.1_Silent_p.E516E|ZNF839_ENST00000559185.1_Silent_p.E516E|ZNF839_ENST00000442396.2_Silent_p.E632E|ZNF839_ENST00000420933.2_3'UTR	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	516						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGCCGGGAGAAGCCCAGGC	0.582000													6	23					0	0	0.001168	0	0
HUWE1	10075	broad.mit.edu	37	X	53618007	53618007	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:53618007C>T	ENST00000342160.3	-	33	4505	c.4048G>A	c.(4048-4050)Gag>Aag	p.E1350K	HUWE1_ENST00000218328.8_Missense_Mutation_p.E1350K|HUWE1_ENST00000262854.6_Missense_Mutation_p.E1350K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1350	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAAGGTACTCTGTGGCCTGC	0.498000													14	11					0	0	0.002450	0	0
MTMR6	9107	broad.mit.edu	37	13	25840348	25840348	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:25840348G>C	ENST00000381801.5	-	4	1142	c.381C>G	c.(379-381)ctC>ctG	p.L127L	MTMR6_ENST00000540661.1_Silent_p.L127L	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	127	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CGAGATCAATGAGCTGCCAGC	0.393000													12	23					0	0	0.001368	0	0
AGO4	192670	broad.mit.edu	37	1	36291379	36291379	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:36291379G>T	ENST00000373210.3	+	5	833	c.588G>T	c.(586-588)gtG>gtT	p.V196V		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		ATCAGTCTGTGAGACCTGCCA	0.483000													42	132					1.32136e-16	2.38356e-16	0.008740	1	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650544	146650544	+	RNA	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:146650544G>A	ENST00000607149.1	+	0	350																											ACAGGGTAATGATGGTGGCAA	0.408000													10	36					0	0	0.006214	0	0
ATP1B3	483	broad.mit.edu	37	3	141622545	141622545	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:141622545C>G	ENST00000539728.1	+	3	444	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V	ATP1B3_ENST00000462082.1_Silent_p.L18L|ATP1B3_ENST00000286371.3_Missense_Mutation_p.L65V			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	65					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						GCTTCAGACTCTCAACGATGA	0.373000													12	110					0	0	0.000978	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349151	30349151	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:30349151C>G	ENST00000327564.7	+	1	1128	c.1067C>G	c.(1066-1068)cCa>cGa	p.P356R	LRRC37B_ENST00000543378.2_Missense_Mutation_p.P247R|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P341R|LRRC37B_ENST00000341671.7_Missense_Mutation_p.P329R|LRRC37B_ENST00000394713.3_Missense_Mutation_p.P329R			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	329						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GTTCAACCTCCAGGTGAGGAT	0.473000													34	132					0	0	0.004878	0	0
MON1A	84315	broad.mit.edu	37	3	49948247	49948247	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:49948247C>T	ENST00000417270.1	-	5	1401	c.708G>A	c.(706-708)tcG>tcA	p.S236S	MON1A_ENST00000296473.3_Silent_p.S325S|MON1A_ENST00000455683.2_Silent_p.S163S|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	228							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTCTTGTGCCGACTGCCGCG	0.582000													7	19					0	0	0.001984	0	0
NLRP12	91662	broad.mit.edu	37	19	54308652	54308652	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:54308652G>C	ENST00000324134.6	-	5	2464	c.2296C>G	c.(2296-2298)Ctc>Gtc	p.L766V	NLRP12_ENST00000345770.5_Missense_Mutation_p.L767V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L767V|NLRP12_ENST00000391775.3_Missense_Mutation_p.L766V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L766V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L767V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L766V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L766V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	766					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGGCTATGAGAGCTGCAGAG	0.557000													13	105					0	0	0.002450	0	0
NETO1	81832	broad.mit.edu	37	18	70526106	70526106	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:70526106C>G	ENST00000327305.6	-	4	1081	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	NETO1_ENST00000583169.1_Missense_Mutation_p.E142Q|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.E141Q|NETO1_ENST00000299430.2_Missense_Mutation_p.E141Q	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	142	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATTCCAGCTCTCCATCAGCA	0.338000													14	37					0	0	0.004007	0	0
TDRP	157695	broad.mit.edu	37	8	444518	444518	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:444518C>G	ENST00000324079.6	-	2	428	c.188G>C	c.(187-189)aGa>aCa	p.R63T	TDRP_ENST00000427263.2_Missense_Mutation_p.R63T|TDRP_ENST00000524229.1_5'UTR|TDRP_ENST00000523656.1_Missense_Mutation_p.R63T					testis development related protein																		AGATTTACATCTTTCCAGGAG	0.398000													5	47					0	0	0.000602	0	0
RRP12	23223	broad.mit.edu	37	10	99131844	99131844	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:99131844G>A	ENST00000370992.4	-	20	2440	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	RRP12_ENST00000536831.1_Missense_Mutation_p.R495W|RRP12_ENST00000315563.6_Missense_Mutation_p.R677W|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.R716W	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	777						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGGTAGGGCCGGATGGTGGAG	0.622000													12	41					0	0	0.001855	0	0
PRSS1	5644	broad.mit.edu	37	7	142460829	142460829	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:142460829C>G	ENST00000486171.1	+	6	761	c.744C>G	c.(742-744)aaC>aaG	p.N248K	PRSS1_ENST00000311737.7_Missense_Mutation_p.N234K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	234					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGGTCTACAACTATGTGAAAT	0.493000													3	98					0	0	0.004672	0	0
ZNF253	56242	broad.mit.edu	37	19	20002713	20002713	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:20002713G>A	ENST00000589717.1	+	4	749	c.657G>A	c.(655-657)aaG>aaA	p.K219K	ZNF253_ENST00000355650.4_Silent_p.K143K	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	219					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTACACATAAGAGAATTCATA	0.383000													12	47					0	0	0.002450	0	0
GEM	2669	broad.mit.edu	37	8	95272531	95272531	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:95272531G>C	ENST00000297596.2	-	2	465	c.201C>G	c.(199-201)atC>atG	p.I67M	GEM_ENST00000396194.2_Missense_Mutation_p.I67M	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	67					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACTCAGAGGAGATGACTGAGT	0.587000													11	53					0	0	0.008291	0	0
DNMT3B	1789	broad.mit.edu	37	20	31385005	31385005	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:31385005G>C	ENST00000328111.2	+	14	1711	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.E444Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.E456Q|DNMT3B_ENST00000443239.3_Missense_Mutation_p.E402Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.E368Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.E444Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.E444Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	464	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGCTTCCTTGAGCTGTTTTA	0.572000													23	119					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9067629	9067629	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:9067629G>C	ENST00000397910.4	-	3	20020	c.19817C>G	c.(19816-19818)tCt>tGt	p.S6606C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6608	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACGAATAAGATTCCTTTTC	0.433000													6	192					0	0	0.003080	0	0
MYBPC2	4606	broad.mit.edu	37	19	50951529	50951529	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:50951529G>A	ENST00000357701.5	+	13	1405	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	452	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GACGGTGAAGGCCTCAGAACA	0.547000													5	53					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179554565	179554565	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:179554565C>G	ENST00000589042.1	-	122	32045	c.31821G>C	c.(31819-31821)aaG>aaC	p.K10607N	TTN_ENST00000342992.6_Missense_Mutation_p.K9363N|TTN_ENST00000591111.1_Missense_Mutation_p.K10290N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10290	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCTTTTTCTTTGCAACAG	0.378000													10	188					0	0	0.008291	0	0
HMX3	340784	broad.mit.edu	37	10	124896741	124896741	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:124896741G>A	ENST00000357878.5	+	2	657	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	190					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AAAGGAAGGCGAAGCGGCGCC	0.652000													4	10					0	0	0.000248	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868111	31868111	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:31868111G>C	ENST00000375527.2	-	2	1147	c.972C>G	c.(970-972)ttC>ttG	p.F324L	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	324	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TTCCACCTGAGAAGCCCCCAG	0.687000													7	35					0	0	0.003080	0	0
ELF4	2000	broad.mit.edu	37	X	129201444	129201444	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:129201444G>A	ENST00000308167.5	-	9	1623	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	ELF4_ENST00000335997.7_Missense_Mutation_p.S415L	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	415					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGTCAGGGCCGAGCCCGACCC	0.587000			T	ERG	AML								25	38					0	0	0.004656	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852536	31852536	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:31852536C>T	ENST00000390689.2	-	1	127	c.101G>A	c.(100-102)aGa>aAa	p.R34K		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	34	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGAACCCCGTCTGCAGAAGCT	0.587000													71	211					0	0	0.003610	0	0
PIK3R1	5295	broad.mit.edu	37	5	67576368	67576368	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:67576368C>G	ENST00000521381.1	+	6	1263	c.647C>G	c.(646-648)tCc>tGc	p.S216C	PIK3R1_ENST00000521657.1_Missense_Mutation_p.S216C|PIK3R1_ENST00000274335.5_Missense_Mutation_p.S216C|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S216C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	216	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTACAAAGCTCCGAAGAATAT	0.343000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			26	130					0	0	0.008361	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952223	144952223	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:144952223C>T	ENST00000369359.4	-	7	945	c.907G>A	c.(907-909)Gag>Aag	p.E303K	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E232K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E303K|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.E303K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E166K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	166					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCAGGGCCTCAGTGTATTGG	0.522000			T	PDGFRB	MPD								15	157					0	0	0.007413	0	0
TESK1	7016	broad.mit.edu	37	9	35606017	35606017	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:35606017A>C	ENST00000336395.5	+	2	506	c.256A>C	c.(256-258)Aag>Cag	p.K86Q	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	86	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATGGTGCTGAAGATGAACAA	0.657000													5	70					0	0	0.000602	0	0
OR52K2	119774	broad.mit.edu	37	11	4470668	4470668	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:4470668C>G	ENST00000325719.4	+	1	144	c.99C>G	c.(97-99)ttC>ttG	p.F33L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCCTTTCTGCTTAGCAT	0.517000													7	70					0	0	0.001984	0	0
ZNF446	55663	broad.mit.edu	37	19	58991811	58991811	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:58991811G>A	ENST00000335841.4	+	6	1103	c.986G>A	c.(985-987)gGc>gAc	p.G329D	ZNF446_ENST00000594369.1_Silent_p.G357G|ZNF446_ENST00000596341.1_Silent_p.G306G			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	0	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACACGAGTGGGCCAGGTGTGC	0.662000													11	40					0	0	0.001368	0	0
FCGBP	8857	broad.mit.edu	37	19	40376432	40376432	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:40376432G>C	ENST00000221347.6	-	25	11879	c.11872C>G	c.(11872-11874)Ctg>Gtg	p.L3958V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3958	Cys-rich.|TIL 9.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCACTGCAGAGGGGCACTG	0.632000													5	29					0	0	0.008291	0	0
ANK2	287	broad.mit.edu	37	4	114195732	114195732	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:114195732C>T	ENST00000357077.4	+	15	1663	c.1610C>T	c.(1609-1611)tCt>tTt	p.S537F	ANK2_ENST00000264366.6_Missense_Mutation_p.S537F|ANK2_ENST00000506722.1_Missense_Mutation_p.S516F|ANK2_ENST00000394537.3_Missense_Mutation_p.S537F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	537					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCACATCTCTGCCCGGGAG	0.532000													22	36					0	0	0.001882	0	0
MCM7	4176	broad.mit.edu	37	7	99696975	99696975	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:99696975C>T	ENST00000303887.5	-	4	973	c.328G>A	c.(328-330)Gag>Aag	p.E110K	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.E110K	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	110					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTCCGCTGCTCCATCATTAGC	0.483000													23	100					0	0	0.002299	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578131	14578131	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:14578131G>T	ENST00000544627.1	+	2	1626	c.1306G>T	c.(1306-1308)Gac>Tac	p.D436Y	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D428Y|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D428Y|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D428Y|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D428Y			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	428	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGAAAATACAGACTCTATGGA	0.333000													9	49					0.00448238	0.00752111	0.004482	1	0
ATP6V1B2	526	broad.mit.edu	37	8	20074737	20074737	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:20074737C>A	ENST00000276390.2	+	12	1208	c.1168C>A	c.(1168-1170)Cca>Aca	p.P390T		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	390					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CAAGATTTATCCACCTATCAA	0.363000													13	79					1.5842e-08	2.78356e-08	0.001855	1	0
ZFP69B	65243	broad.mit.edu	37	1	40928626	40928626	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:40928626C>T	ENST00000411995.2	+	6	1345	c.970C>T	c.(970-972)Ccg>Tcg	p.P324S	ZFP69B_ENST00000361584.3_Missense_Mutation_p.P222S|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		ATCTCTTATTCCGCATCAGAG	0.403000													9	48					0	0	0.004482	0	0
OR4C46	119749	broad.mit.edu	37	11	51515816	51515816	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:51515816C>T	ENST00000328188.1	+	1	535	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TATGTGTGATCTGAACCCTTT	0.458000													23	98					0	0	0.007291	0	0
CDCA5	113130	broad.mit.edu	37	11	64851416	64851416	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:64851416G>C	ENST00000275517.3	-	1	207	c.35C>G	c.(34-36)gCt>gGt	p.A12G	CDCA5_ENST00000404147.3_Missense_Mutation_p.A12G	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	12					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGAGCGCTGAGCGGCTCCTCC	0.721000													14	51					0	0	0.003163	0	0
FSIP1	161835	broad.mit.edu	37	15	40068622	40068622	+	Missense_Mutation	SNP	G	G	A	rs148913803		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:40068622G>A	ENST00000350221.3	-	2	313	c.104C>T	c.(103-105)tCa>tTa	p.S35L	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	35										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TGGTTCTGTTGAGAGCACCTC	0.388000													16	68					0	0	0.004007	0	0
C12orf4	57102	broad.mit.edu	37	12	4639069	4639069	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:4639069C>T	ENST00000261250.3	-	4	559	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	C12orf4_ENST00000545746.1_Missense_Mutation_p.E158K	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	158										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ACATCTCTTTCACCAATCAGT	0.343000													12	59					0	0	0.001855	0	0
LGR6	59352	broad.mit.edu	37	1	202245595	202245595	+	Missense_Mutation	SNP	G	G	A	rs142083498		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:202245595G>A	ENST00000367278.3	+	5	679	c.590G>A	c.(589-591)cGc>cAc	p.R197H	LGR6_ENST00000255432.7_Missense_Mutation_p.R145H|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	197						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCCTCAACCGCATCAGCCAC	0.637000													9	33					0	0	0.006214	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659879	74659879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:74659879G>T	ENST00000268053.6	-	1	202	c.48C>A	c.(46-48)tgC>tgA	p.C16*	CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000541301.1_Nonsense_Mutation_p.C16*	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	16				C -> Y (in Ref. 1; AAA52162).	C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GAAAGGTCTGGCAGCCTTTGA	0.652000													6	39					3.59834e-05	6.14853e-05	0.001168	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88247624	88247624	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:88247624C>T	ENST00000357081.3	-	14	2112	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	AGTPBP1_ENST00000432218.1_Silent_p.P494P|AGTPBP1_ENST00000376083.3_Silent_p.P616P|AGTPBP1_ENST00000376109.3_Silent_p.P668P|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	656					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TGAATGGAGGCGGAATGTGAC	0.403000													11	56					0	0	0.008291	0	0
PRM2	5620	broad.mit.edu	37	16	11370049	11370049	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:11370049C>T	ENST00000435245.2	-	1	288	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	PRM2_ENST00000241808.4_Missense_Mutation_p.R60Q|RMI2_ENST00000572173.1_Intron			P04554	PRM2_HUMAN	protamine 2	60					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CAGCCTCCTTCGAGAGCAGTG	0.642000													25	76					0	0	0.004656	0	0
BMPER	168667	broad.mit.edu	37	7	34101656	34101656	+	Missense_Mutation	SNP	G	G	A	rs139550819		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:34101656G>A	ENST00000297161.2	+	12	1449	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	BMPER_ENST00000426693.1_Missense_Mutation_p.E359K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	359					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TATTTGCACTGAAAGTAAGTT	0.299000													4	33					0	0	0.000602	0	0
ZBTB11	27107	broad.mit.edu	37	3	101373663	101373663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:101373663C>A	ENST00000312938.4	-	8	2774	c.2194G>T	c.(2194-2196)Gag>Tag	p.E732*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACTTGGACTCTCCTATTAGA	0.423000													5	54					0.000602214	0.00101735	0.000602	1	0
KIAA2026	158358	broad.mit.edu	37	9	5922659	5922659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:5922659G>A	ENST00000399933.3	-	8	3336	c.3337C>T	c.(3337-3339)Cag>Tag	p.Q1113*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.Q1083*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1113										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTTTATGCTGAATCACAAAA	0.373000													27	100					0	0	0.006320	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389547	6389547	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:6389547C>A	ENST00000394456.5	-	4	698	c.234G>T	c.(232-234)gaG>gaT	p.E78D	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Missense_Mutation_p.E50D	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	78					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TCCTCCGAGCCTCCTCCCGAA	0.607000													35	166					2.42023e-17	4.37639e-17	0.003271	1	0
RNASE9	390443	broad.mit.edu	37	14	21025129	21025129	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:21025129C>G	ENST00000557068.1	-	4	1825	c.100G>C	c.(100-102)Gat>Cat	p.D34H	RNASE9_ENST00000553706.1_Missense_Mutation_p.D39H|RNASE9_ENST00000553541.1_Missense_Mutation_p.D34H|RNASE9_ENST00000557209.1_Missense_Mutation_p.D39H|RNASE9_ENST00000429244.2_Missense_Mutation_p.D34H|RNASE9_ENST00000556208.1_Missense_Mutation_p.D39H|RNASE9_ENST00000404716.3_Missense_Mutation_p.D39H|RNASE9_ENST00000555230.1_Missense_Mutation_p.D34H|RNASE9_ENST00000338904.3_Missense_Mutation_p.D34H|RNASE9_ENST00000554964.1_Missense_Mutation_p.D34H			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	34						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TCTGGGAAATCAAAATCTGTA	0.438000													14	45					0	0	0.001855	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367779	37367779	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:37367779G>C	ENST00000361924.2	+	14	4776	c.4402G>C	c.(4402-4404)Gag>Cag	p.E1468Q	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1490Q	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1468	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCAGCTTGAGTTAAAATC	0.343000													4	45					0	0	0.000248	0	0
FAM129B	64855	broad.mit.edu	37	9	130270171	130270171	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:130270171C>G	ENST00000373312.3	-	13	1842	c.1629G>C	c.(1627-1629)caG>caC	p.Q543H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.Q530H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	543							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCATGACGGTCTGCAGCACCA	0.642000													13	95					0	0	0.004990	0	0
BMP8B	656	broad.mit.edu	37	1	40230448	40230448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:40230448G>A	ENST00000372827.3	-	4	1090	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	BMP8B_ENST00000397360.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	239					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGTGGGGCCCGTTGACCCAGC	0.657000													8	103					0	0	0.008291	0	0
ABCD3	5825	broad.mit.edu	37	1	94955518	94955518	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:94955518G>C	ENST00000370214.4	+	15	1333	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H	ABCD3_ENST00000394233.2_Missense_Mutation_p.D327H|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.D461H|ABCD3_ENST00000536817.1_Missense_Mutation_p.D364H	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	437					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CATTATTGCAGATAACATTAT	0.323000													14	88					0	0	0.002450	0	0
BRIP1	83990	broad.mit.edu	37	17	59885908	59885908	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:59885908C>T	ENST00000259008.2	-	7	1105	c.838G>A	c.(838-840)Gat>Aat	p.D280N	BRIP1_ENST00000577598.1_Missense_Mutation_p.D280N	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	280	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CAAGTATGATCCCTGCTGGAA	0.438000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					16	64					0	0	0.003163	0	0
ATP8B3	148229	broad.mit.edu	37	19	1800407	1800407	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:1800407G>A	ENST00000539485.1	-	13	1427	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	ATP8B3_ENST00000525591.1_Silent_p.F351F|ATP8B3_ENST00000526092.1_Silent_p.F345F|ATP8B3_ENST00000310127.6_Silent_p.F398F			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	398					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCGAAGCCGAAGGCCAACA	0.597000													22	78					0	0	0.005443	0	0
BRF1	2972	broad.mit.edu	37	14	105677498	105677498	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:105677498C>T	ENST00000546474.1	-	17	16916	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	BRF1_ENST00000379937.2_Missense_Mutation_p.E626K|BRF1_ENST00000327359.3_Missense_Mutation_p.E538K|BRF1_ENST00000446501.2_Missense_Mutation_p.E415K|BRF1_ENST00000547530.1_Missense_Mutation_p.E179K|BRF1_ENST00000440513.3_Missense_Mutation_p.E560K|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.E449K|BRF1_ENST00000551787.1_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	653					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACGCAGGGCTCCCCGTCCTCC	0.667000													28	99					0	0	0.008361	0	0
CAPN3	825	broad.mit.edu	37	15	42678467	42678467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:42678467G>A	ENST00000397163.3	+	3	701	c.482G>A	c.(481-483)gGg>gAg	p.G161E	CAPN3_ENST00000357568.3_Missense_Mutation_p.G161E|CAPN3_ENST00000356316.3_Missense_Mutation_p.G74E|CAPN3_ENST00000349748.3_Missense_Mutation_p.G161E|CAPN3_ENST00000318023.7_Missense_Mutation_p.G161E|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	161	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AACTACGCAGGGATCTTCCAC	0.547000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	95					0	0	0.007413	0	0
APLNR	187	broad.mit.edu	37	11	57003609	57003609	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:57003609G>T	ENST00000606794.1	-	1	1066	c.870C>A	c.(868-870)atC>atA	p.I290I		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	290						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGTAGGGGAAGATGTTCATGA	0.587000													5	46					1.23904e-05	2.13184e-05	0.000602	1	0
TMC1	117531	broad.mit.edu	37	9	75441857	75441857	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:75441857C>G	ENST00000297784.5	+	21	2616	c.2076C>G	c.(2074-2076)atC>atG	p.I692M	TMC1_ENST00000340019.3_Missense_Mutation_p.I692M|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.I692M	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	692					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGGCGAAGATCTTGAGACAGC	0.463000													47	151					0	0	0.003610	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139477	90139477	+	RNA	SNP	G	G	A	rs2848291	by1000genomes	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:90139477G>A	ENST00000492446.1	+	0	275																											GTCCCATCAAGGTTCAGCGGC	0.483000													5	173					0	0	0.000602	0	0
AP4B1	10717	broad.mit.edu	37	1	114442908	114442908	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:114442908G>C	ENST00000369569.1	-	5	1012	c.732C>G	c.(730-732)ctC>ctG	p.L244L	AP4B1_ENST00000369566.3_Silent_p.L151L|AP4B1_ENST00000256658.4_Silent_p.L244L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.L76L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	244					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTGCTCTTGAGGAAACTAT	0.473000													5	56					0	0	0.000602	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698869	13698869	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:13698869G>A	ENST00000357447.2	-	22	3088	c.2720C>T	c.(2719-2721)cCg>cTg	p.P907L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P907L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P892L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	907						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCCAGCGACGGAGTCCGCAG	0.751000													6	10					0	0	0.001168	0	0
LPP	4026	broad.mit.edu	37	3	188327198	188327198	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:188327198T>G	ENST00000312675.4	+	6	925	c.679T>G	c.(679-681)Tca>Gca	p.S227A	LPP_ENST00000543006.1_Missense_Mutation_p.S227A|LPP_ENST00000448637.1_Missense_Mutation_p.S227A|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	227	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCAGGTGAAGTCAGCCCAGCC	0.562000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								11	92					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179403892	179403892	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:179403892C>T	ENST00000589042.1	-	353	98994	c.98770G>A	c.(98770-98772)Gat>Aat	p.D32924N	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30356N|TTN_ENST00000591111.1_Missense_Mutation_p.D31283N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24051N|TTN_ENST00000460472.2_Missense_Mutation_p.D23859N|TTN_ENST00000359218.5_Missense_Mutation_p.D23984N|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31283							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)			GAACCACCATCATCTTTGGGC	0.468000													16	60					0	0	0.003163	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209601	140209601	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:140209601C>G	ENST00000529310.1	+	1	2039	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCGGACTCTCCGCGCCAC	0.672000													25	60					0	0	0.003954	0	0
FAM53C	51307	broad.mit.edu	37	5	137680625	137680625	+	Missense_Mutation	SNP	G	G	A	rs146380618	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:137680625G>A	ENST00000239906.5	+	4	676	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.R83Q	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	83										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCACCCAGTCGGGGAAACTCC	0.622000													24	90					0	0	0.003954	0	0
EVI5L	115704	broad.mit.edu	37	19	7912766	7912766	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:7912766G>A	ENST00000270530.4	+	3	482	c.286G>A	c.(286-288)Gag>Aag	p.E96K	EVI5L_ENST00000538904.2_Missense_Mutation_p.E96K	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	96						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GATCGCCAACGAGTGGGAGGA	0.697000													4	7					0	0	0.000602	0	0
CACNG6	59285	broad.mit.edu	37	19	54496185	54496185	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:54496185G>A	ENST00000252729.2	+	1	644	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CACNG6_ENST00000352529.1_Silent_p.A18A|CACNG6_ENST00000346968.2_Silent_p.A18A	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	18						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		ggggggccgcgggccggcggc	0.741000													4	18					0	0	0.000248	0	0
PYGL	5836	broad.mit.edu	37	14	51411035	51411035	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:51411035C>T	ENST00000216392.7	-	1	419	c.87G>A	c.(85-87)aaG>aaA	p.K29K	PYGL_ENST00000532462.1_Silent_p.K29K|PYGL_ENST00000544180.2_Silent_p.K29K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	29					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGAAACTCTTCTTCAGCTCTG	0.667000													18	38					0	0	0.006122	0	0
METAP2	10988	broad.mit.edu	37	12	95868071	95868071	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:95868071G>C	ENST00000323666.5	+	1	345	c.116G>C	c.(115-117)aGa>aCa	p.R39T	METAP2_ENST00000546753.1_Missense_Mutation_p.R39T|METAP2_ENST00000261220.9_Missense_Mutation_p.R39T|METAP2_ENST00000550777.1_Missense_Mutation_p.R39T|METAP2_ENST00000551840.1_Missense_Mutation_p.R39T	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	39	Arg/Lys-rich (basic).				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAGAAAAAAAGACGAAAGAAG	0.557000													15	68					0	0	0.004007	0	0
HTR6	3362	broad.mit.edu	37	1	19992627	19992627	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:19992627C>G	ENST00000289753.1	+	1	848	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	127					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GCTACCTGCTCATCCTCTCGC	0.687000													8	102					0	0	0.003080	0	0
HGSNAT	138050	broad.mit.edu	37	8	43053070	43053070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:43053070G>A	ENST00000458501.2	+	17	1785	c.1785G>A	c.(1783-1785)tgG>tgA	p.W595*	HGSNAT_ENST00000379644.4_Nonsense_Mutation_p.W567*|HGSNAT_ENST00000521576.1_Nonsense_Mutation_p.W284*|HGSNAT_ENST00000297798.7_Nonsense_Mutation_p.W299*			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	595					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGGGGCTGTGGACAGGAACCC	0.552000													6	22					0	0	0.001984	0	0
BSG	682	broad.mit.edu	37	19	579570	579570	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:579570C>T	ENST00000333511.3	+	3	556	c.486C>T	c.(484-486)agC>agT	p.S162S	BSG_ENST00000353555.4_Silent_p.S46S|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_5'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	162	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAATGACAGCGCCACAGAGG	0.627000													16	45					0	0	0.004990	0	0
POGK	57645	broad.mit.edu	37	1	166819358	166819358	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:166819358G>C	ENST00000367875.1	+	5	1902	c.1542G>C	c.(1540-1542)ctG>ctC	p.L514L	POGK_ENST00000537173.1_Silent_p.L396L|POGK_ENST00000367876.4_Silent_p.L514L|POGK_ENST00000536514.1_Silent_p.L429L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	514	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						acaagccactgaatgacagtg	0.567000													4	12					0	0	0.000248	0	0
CLIC4	25932	broad.mit.edu	37	1	25153552	25153552	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:25153552C>T	ENST00000374379.4	+	4	557	c.360C>T	c.(358-360)gaC>gaT	p.D120D	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	120	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CTGGAATGGACATCTTTGCCA	0.333000													16	143					0	0	0.003163	0	0
PRSS58	136541	broad.mit.edu	37	7	141952098	141952098	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:141952098G>T	ENST00000552471.1	-	5	988	c.669C>A	c.(667-669)atC>atA	p.I223I	PRSS58_ENST00000547058.2_Silent_p.I223I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	223	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTTTGGCATAGATGCCAACAT	0.458000													7	19					0.00198382	0.00334377	0.001984	1	0
P4HA2	8974	broad.mit.edu	37	5	131530707	131530707	+	Silent	SNP	A	A	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:131530707A>C	ENST00000401867.1	-	15	2017	c.1449T>G	c.(1447-1449)gcT>gcG	p.A483A	P4HA2_ENST00000379104.2_Silent_p.A483A|P4HA2_ENST00000379100.2_Silent_p.A481A|P4HA2_ENST00000360568.3_Silent_p.A481A|P4HA2_ENST00000379086.1_Silent_p.A481A|P4HA2_ENST00000166534.4_Silent_p.A483A			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	483	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ACCAGAACACAGCTGTACCCT	0.542000													19	52					0	0	0.008871	0	0
SMEK2	57223	broad.mit.edu	37	2	55792169	55792169	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:55792169G>C	ENST00000272313.5	-	12	2016	c.1689C>G	c.(1687-1689)atC>atG	p.I563M	SMEK2_ENST00000345102.5_Missense_Mutation_p.I648M|SMEK2_ENST00000407823.3_Missense_Mutation_p.I616M	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	648						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAAGAGACTTGATATCTTCCT	0.279000													2	9					0	0	0.004672	0	0
TTC6	319089	broad.mit.edu	37	14	38286810	38286810	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:38286810C>T	ENST00000553443.1	+	26	4717	c.4717C>T	c.(4717-4719)Cgg>Tgg	p.R1573W	TTC6_ENST00000382320.3_Missense_Mutation_p.R287W|TTC6_ENST00000476979.1_Missense_Mutation_p.R207W|TTC6_ENST00000267368.7_Missense_Mutation_p.R207W					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		ACTGATAAGCCGGACTAACGG	0.393000													6	79					0	0	0.001984	0	0
ZNF396	252884	broad.mit.edu	37	18	32954025	32954025	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:32954025G>A	ENST00000306346.1	-	2	363	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	ZNF396_ENST00000586687.1_Missense_Mutation_p.H78Y|ZNF396_ENST00000589332.1_Missense_Mutation_p.H78Y	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	78	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H78Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGCCAGAGATGACAAAGTTCC	0.597000													13	74					0	0	0.001368	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884391	64884391	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:64884391G>C	ENST00000310597.4	-	1	779	c.735C>G	c.(733-735)ctC>ctG	p.L245L		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	245							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CGGAAACGCCGAGCAGTGTGG	0.662000													7	13					0	0	0.001984	0	0
EPHA4	2043	broad.mit.edu	37	2	222428965	222428965	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:222428965G>A	ENST00000281821.2	-	3	350	c.309C>T	c.(307-309)ttC>ttT	p.F103F	EPHA4_ENST00000409854.1_Silent_p.F103F|EPHA4_ENST00000392071.4_Silent_p.F52F|EPHA4_ENST00000409938.1_Silent_p.F103F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	103						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCCTCAAGGTGAATTTAATCT	0.473000													19	87					0	0	0.008871	0	0
CPN2	1370	broad.mit.edu	37	3	194063020	194063020	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:194063020C>G	ENST00000323830.3	-	2	501	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	CPN2_ENST00000429275.1_Missense_Mutation_p.E138Q	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	138					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAAAGACCCTCGGGCAGAGCC	0.607000													5	89					0	0	0.000602	0	0
ITGB2	3689	broad.mit.edu	37	21	46320373	46320373	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:46320373G>A	ENST00000397850.2	-	8	1211	c.759C>T	c.(757-759)cgC>cgT	p.R253R	ITGB2_ENST00000397854.3_Silent_p.R196R|ITGB2_ENST00000397857.1_Silent_p.R253R|ITGB2_ENST00000355153.4_Silent_p.R253R|ITGB2_ENST00000397852.1_Silent_p.R253R|ITGB2_ENST00000302347.5_Silent_p.R253R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	253	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCGTGACGTTGCGCCAGCCGA	0.652000													11	46					0	0	0.000978	0	0
C12orf60	144608	broad.mit.edu	37	12	14976214	14976214	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:14976214C>G	ENST00000330828.2	+	2	549	c.345C>G	c.(343-345)ttC>ttG	p.F115L	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	115										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AAGAAGTATTCAAAAGTGCCC	0.433000													25	75					0	0	0.005443	0	0
TTI2	80185	broad.mit.edu	37	8	33357860	33357860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:33357860G>A	ENST00000431156.2	-	7	2026	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	TTI2_ENST00000360742.5_Nonsense_Mutation_p.Q470*|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000520636.1_Nonsense_Mutation_p.Q439*|TTI2_ENST00000519356.1_5'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	470							binding										ACCCGTCCTTGAGAACAGCGG	0.458000													10	41					0	0	0.006214	0	0
TESK1	7016	broad.mit.edu	37	9	35605991	35605991	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:35605991G>C	ENST00000336395.5	+	2	480	c.230G>C	c.(229-231)cGa>cCa	p.R77P	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	77	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTTCGGCACCGACAGTCAGGG	0.672000													5	71					0	0	0.001168	0	0
TPK1	27010	broad.mit.edu	37	7	144245667	144245667	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:144245667C>T	ENST00000549981.1	-	10	902	c.179G>A	c.(178-180)gGa>gAa	p.G60E	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.G123E|TPK1_ENST00000378099.3_Missense_Mutation_p.G128E|TPK1_ENST00000360057.3_Missense_Mutation_p.G177E			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	177					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACCCTCCATTCCAGTGTCTAC	0.468000													19	60					0	0	0.008871	0	0
GFOD1	54438	broad.mit.edu	37	6	13487002	13487002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:13487002C>A	ENST00000379287.3	-	1	785	c.121G>T	c.(121-123)Gag>Tag	p.E41*	GFOD1_ENST00000603223.1_Nonsense_Mutation_p.E41*|GFOD1-AS1_ENST00000446001.1_RNA	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	41						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TTGGCCAGCTCCTCCGCTTCT	0.627000													25	82					7.38237e-10	1.30329e-09	0.006320	1	0
SCN3A	6328	broad.mit.edu	37	2	165986604	165986604	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:165986604C>T	ENST00000360093.3	-	17	3259	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.R874Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R923Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	923						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATGTGCCACCGTGGGAGCGT	0.512000													49	179					0	0	0.003610	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360440	71360440	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:71360440G>A	ENST00000244230.2	+	2	854	c.502G>A	c.(502-504)Gat>Aat	p.D168N	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D168N	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	168					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CGTTTTCAGTGATGAGGATTC	0.443000													7	70					0	0	0.003080	0	0
FLNC	2318	broad.mit.edu	37	7	128485033	128485033	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:128485033G>A	ENST00000325888.8	+	21	3775	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	FLNC_ENST00000346177.6_Missense_Mutation_p.E1172K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1172					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGGTCGGTGAGGCAGCCAC	0.652000													13	35					0	0	0.001368	0	0
CKB	1152	broad.mit.edu	37	14	103986510	103986510	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:103986510C>T	ENST00000348956.2	-	7	1273	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	306	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GAGAACTTCTCATGCTTGCCC	0.632000													8	40					0	0	0.003080	0	0
SPTBN5	51332	broad.mit.edu	37	15	42144929	42144929	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:42144929G>A	ENST00000320955.6	-	61	10579	c.10352C>T	c.(10351-10353)tCa>tTa	p.S3451L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3451					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATCTGACACTGAGTGCTGGGG	0.587000													7	218					0	0	0.001984	0	0
NAV3	89795	broad.mit.edu	37	12	78574787	78574787	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:78574787C>G	ENST00000397909.2	+	30	5827	c.5654C>G	c.(5653-5655)tCt>tGt	p.S1885C	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.S1863C|NAV3_ENST00000266692.7_Missense_Mutation_p.S1686C|NAV3_ENST00000228327.6_Missense_Mutation_p.S1863C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1885	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTAGGACTTTCTCTAAACAAT	0.483000										HNSCC(70;0.22)			21	89					0	0	0.003954	0	0
ZDHHC11	79844	broad.mit.edu	37	5	801245	801245	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:801245C>T	ENST00000283441.8	-	12	1599	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.D406N	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	406						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)			TCAGCACTGTCAGTTTTCATG	0.398000													11	104					0	0	0.001368	0	0
HOXD8	3234	broad.mit.edu	37	2	176996323	176996323	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:176996323G>A	ENST00000313173.4	+	2	1483	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	HOXD8_ENST00000450510.2_Missense_Mutation_p.E285K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Missense_Mutation_p.E102K|HOXD8_ENST00000548663.1_Missense_Mutation_p.E182K|HOXD8_ENST00000544999.1_Missense_Mutation_p.E285K	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	286					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AGACAGAGCCGAAGGCCTGAC	0.423000													12	29					0	0	0.000978	0	0
MORC2	22880	broad.mit.edu	37	22	31333850	31333850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:31333850G>A	ENST00000215862.4	-	15	2498	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	MORC2_ENST00000397641.2_Nonsense_Mutation_p.R441*|MORC2_ENST00000469915.1_Intron	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	441							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCCATTGCTCGGAGCAGGTGC	0.567000													12	63					0	0	0.001368	0	0
MUC2	4583	broad.mit.edu	37	11	1096554	1096554	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:1096554G>A	ENST00000441003.2	+	34	6606	c.6579G>A	c.(6577-6579)atG>atA	p.M2193I	MUC2_ENST00000361558.6_Missense_Mutation_p.M331I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4555						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGTGCATATGATGCCCATGC	0.637000													5	20					0	0	0.000602	0	0
AOAH	313	broad.mit.edu	37	7	36677476	36677476	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:36677476A>T	ENST00000431169.1	-	5	731	c.431T>A	c.(430-432)gTc>gAc	p.V144D	AOAH_ENST00000535891.1_Missense_Mutation_p.V112D|AOAH_ENST00000258749.5_Missense_Mutation_p.V144D	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	144					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGACTTCTTGACAATTTGTCT	0.428000													7	30					0	0	0.003080	0	0
DOCK8	81704	broad.mit.edu	37	9	368027	368027	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:368027C>G	ENST00000432829.2	+	15	1801	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000453981.1_Silent_p.L563L|DOCK8_ENST00000469391.1_Silent_p.L495L|DOCK8_ENST00000382329.1_5'UTR	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	563	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAACCTTCTCTATGTCTACC	0.378000													9	56					0	0	0.006214	0	0
CLOCK	9575	broad.mit.edu	37	4	56301653	56301653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:56301653G>A	ENST00000309964.4	-	22	2720	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.Q824*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.Q824*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	824	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGCTGTTGCTGAGACTGATGT	0.527000													25	56					0	0	0.004656	0	0
VLDLR	7436	broad.mit.edu	37	9	2645067	2645067	+	Missense_Mutation	SNP	G	G	A	rs140062795	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:2645067G>A	ENST00000382100.2	+	9	1653	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	VLDLR_ENST00000382099.2_Missense_Mutation_p.V433M	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	433	EGF-like 2; calcium-binding (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGCTACTGGCGTGTGCAAGGC	0.418000													6	108					0	0	0.001984	0	0
KIF6	221458	broad.mit.edu	37	6	39330286	39330286	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:39330286C>T	ENST00000287152.7	-	17	1964	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	KIF6_ENST00000394362.1_Missense_Mutation_p.E75K|KIF6_ENST00000538893.1_Missense_Mutation_p.E568K|KIF6_ENST00000541946.1_Missense_Mutation_p.E75K|KIF6_ENST00000373215.3_Missense_Mutation_p.E607K|KIF6_ENST00000373213.4_Missense_Mutation_p.E463K|KIF6_ENST00000229913.5_Missense_Mutation_p.E75K|KIF6_ENST00000373216.3_Missense_Mutation_p.E624K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	624					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCCATGTTTTCCGAGATTCCT	0.512000											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	137					0	0	0.006320	0	0
ZNF804B	219578	broad.mit.edu	37	7	88956698	88956698	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:88956698T>C	ENST00000333190.4	+	3	899	c.290T>C	c.(289-291)gTa>gCa	p.V97A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	97						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCTCGAAATGTAGCTTCTAAG	0.328000										HNSCC(36;0.09)			7	50					0	0	0.004482	0	0
SBF2	81846	broad.mit.edu	37	11	9810835	9810835	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:9810835C>T	ENST00000256190.8	-	35	4890	c.4753G>A	c.(4753-4755)Gaa>Aaa	p.E1585K	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1585					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AGGGTCTCTTCTATGTAGTAA	0.488000													19	75					0	0	0.001882	0	0
DYRK1A	1859	broad.mit.edu	37	21	38862551	38862551	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:38862551G>A	ENST00000339659.3	+	6	2182	c.712G>A	c.(712-714)Gac>Aac	p.D238N	DYRK1A_ENST00000451934.1_Missense_Mutation_p.D247N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.D19N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.D247N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.D247N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.D247N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D247N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	247	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.D247H(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAACCTCTATGACTTGCTGAG	0.413000													18	66					0	0	0.006122	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354422	45354422	+	Silent	SNP	C	C	T	rs41283042		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:45354422C>T	ENST00000359271.2	+	2	997	c.747C>T	c.(745-747)aaC>aaT	p.N249N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	249						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGCAGCCCAACGTGCTGTGCT	0.617000													38	112					0	0	0.004878	0	0
BMPR2	659	broad.mit.edu	37	2	203397344	203397344	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:203397344G>C	ENST00000374580.4	+	9	1704	c.1165G>C	c.(1165-1167)Gaa>Caa	p.E389Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E389Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	389	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGAAGTGCTAGAAGGAGCTGT	0.378000													7	35					0	0	0.001984	0	0
SBF2	81846	broad.mit.edu	37	11	9810748	9810748	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:9810748C>T	ENST00000256190.8	-	35	4977	c.4840G>A	c.(4840-4842)Gaa>Aaa	p.E1614K	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1614					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCCCAGCTTCTCCAGCCAGG	0.537000													15	50					0	0	0.002450	0	0
AP4E1	23431	broad.mit.edu	37	15	51226870	51226870	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:51226870G>C	ENST00000261842.5	+	8	1025	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	AP4E1_ENST00000560508.1_Missense_Mutation_p.E232Q	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	307					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACGAAGAGCTGAGTTAAATCA	0.274000													6	22					0	0	0.001168	0	0
SLC1A5	6510	broad.mit.edu	37	19	47290911	47290911	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:47290911G>C	ENST00000542575.2	-	1	940	c.312C>G	c.(310-312)atC>atG	p.I104M		NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	104					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CCAGCGGCAAGATGATCATCC	0.721000													4	13					0	0	0.000602	0	0
LMBRD1	55788	broad.mit.edu	37	6	70423682	70423682	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:70423682T>C	ENST00000370577.3	-	9	999	c.770A>G	c.(769-771)gAt>gGt	p.D257G	LMBRD1_ENST00000370570.1_Missense_Mutation_p.D184G	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	257					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGGTCGACCATCTTTGCTCTG	0.363000													7	23					0	0	0.004482	0	0
HIC2	23119	broad.mit.edu	37	22	21800507	21800507	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:21800507G>C	ENST00000443632.2	+	2	1695	c.1323G>C	c.(1321-1323)ttG>ttC	p.L441F	HIC2_ENST00000407464.2_Missense_Mutation_p.L441F|HIC2_ENST00000407598.2_Missense_Mutation_p.L441F			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	441					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GGGACAACTTGTATGTGTGCA	0.622000													18	102					0	0	0.008871	0	0
TRIO	7204	broad.mit.edu	37	5	14291310	14291310	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:14291310G>A	ENST00000344204.4	+	5	1050	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	TRIO_ENST00000537187.1_Silent_p.L342L|TRIO_ENST00000509967.2_Silent_p.L293L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	342					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTTCCAGCTGAGGCTGTTTG	0.587000													18	56					0	0	0.007413	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704509	41704509	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:41704509C>G	ENST00000310054.4	+	4	852	c.636C>G	c.(634-636)gtC>gtG	p.V212V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	212					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TGCTGGGAGTCAGCTCCCAGG	0.617000													4	117					0	0	0.000248	0	0
ANKS1B	56899	broad.mit.edu	37	12	99793498	99793498	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:99793498C>T	ENST00000547776.2	-	12	1666	c.1667G>A	c.(1666-1668)tGc>tAc	p.C556Y	ANKS1B_ENST00000547010.1_Missense_Mutation_p.C136Y|ANKS1B_ENST00000329257.7_Missense_Mutation_p.C556Y	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	556						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAAGCTTGTGCACCCTGTAGA	0.428000													25	74					0	0	0.002780	0	0
UBR4	23352	broad.mit.edu	37	1	19453067	19453067	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:19453067G>C	ENST00000375267.2	-	64	9314	c.9311C>G	c.(9310-9312)tCa>tGa	p.S3104*	UBR4_ENST00000375254.3_Nonsense_Mutation_p.S3104*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.S3097*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.S3080*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3104					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCCAGCAGTGATTTGAGCAC	0.537000													39	124					0	0	0.004289	0	0
MTUS1	57509	broad.mit.edu	37	8	17532707	17532707	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:17532707G>A	ENST00000381869.3	-	7	3204	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000519263.1_Missense_Mutation_p.R911W|MTUS1_ENST00000400046.1_Missense_Mutation_p.R37W|MTUS1_ENST00000381861.3_Missense_Mutation_p.R212W|MTUS1_ENST00000297488.6_Missense_Mutation_p.R131W|MTUS1_ENST00000544260.1_Missense_Mutation_p.R110W|MTUS1_ENST00000262102.6_Missense_Mutation_p.R965W	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	965			K -> T.			Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGCTCTCCCCGGAGGTTAACA	0.463000													10	42					0	0	0.000978	0	0
LRRC28	123355	broad.mit.edu	37	15	99903443	99903443	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:99903443A>T	ENST00000301981.3	+	9	1244	c.1004A>T	c.(1003-1005)gAg>gTg	p.E335V	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.E266V	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	335										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CCCTTGAGAGAGACGCCAATG	0.582000													7	71					0	0	0.003080	0	0
ABCC6	368	broad.mit.edu	37	16	16255391	16255391	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:16255391C>T	ENST00000205557.7	-	25	3566	c.3537G>A	c.(3535-3537)ggG>ggA	p.G1179G		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1179	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCAGGCCATTCCCCAGGAGCT	0.602000													9	54					0	0	0.004482	0	0
SELRC1	65260	broad.mit.edu	37	1	53153466	53153466	+	Missense_Mutation	SNP	C	C	T	rs141260822		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:53153466C>T	ENST00000371538.3	-	3	661	c.622G>A	c.(622-624)Gag>Aag	p.E208K	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	208							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TTTAGCACCTCGGCCTTGGCC	0.532000													25	76					0	0	0.003330	0	0
ZNF473	25888	broad.mit.edu	37	19	50549839	50549839	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:50549839G>C	ENST00000595661.1	+	6	2634	c.2139G>C	c.(2137-2139)caG>caC	p.Q713H	ZNF473_ENST00000391821.2_Missense_Mutation_p.Q713H|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.Q701H|ZNF473_ENST00000270617.3_Missense_Mutation_p.Q713H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	713					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CGTTCCGTCAGAGCTCATGCC	0.502000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	82					0	0	0.001855	0	0
TNN	63923	broad.mit.edu	37	1	175046766	175046766	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:175046766C>T	ENST00000239462.4	+	2	325	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GATGGGGCTTCGCTCTTGGCC	0.587000													10	33					0	0	0.006214	0	0
MYH7B	57644	broad.mit.edu	37	20	33568448	33568448	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:33568448T>C	ENST00000262873.7	+	6	628	c.536T>C	c.(535-537)gTa>gCa	p.V179A	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	137	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACGGCCTCCGTAGTGGCTGCT	0.547000													3	178					0	0	0.004672	0	0
CMTM8	152189	broad.mit.edu	37	3	32398904	32398904	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:32398904G>C	ENST00000307526.3	+	2	481	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	63	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TGCTGGAACTGAGTACTTCCG	0.473000													3	79					0	0	0.004672	0	0
CISH	1154	broad.mit.edu	37	3	50645484	50645484	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:50645484G>A	ENST00000443053.2	-	4	609	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	CISH_ENST00000348721.3_Missense_Mutation_p.H111Y	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	111	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TAGCTGGGGTGCGTGCTGTCA	0.567000													14	37					0	0	0.002450	0	0
HSPA6	3310	broad.mit.edu	37	1	161494658	161494658	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:161494658C>G	ENST00000309758.4	+	1	623	c.210C>G	c.(208-210)ttC>ttG	p.F70L		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	70					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACACCGTGTTCGATGCCAAGC	0.687000													8	28					0	0	0.008291	0	0
OR5H6	79295	broad.mit.edu	37	3	97983934	97983934	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:97983934G>A	ENST00000383696.2	+	1	847	c.806G>A	c.(805-807)gGc>gAc	p.G269D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTATACTATGGCCCCCTCACC	0.398000													13	49					0	0	0.002450	0	0
RP1	6101	broad.mit.edu	37	8	55539467	55539467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:55539467G>A	ENST00000220676.1	+	4	3173	c.3025G>A	c.(3025-3027)Gtt>Att	p.V1009I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1009					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGAGACACAGGTTGGATCTCT	0.383000													44	193					0	0	0.003214	0	0
PTCD2	79810	broad.mit.edu	37	5	71654230	71654230	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:71654230C>G	ENST00000380639.5	+	10	1159	c.1143C>G	c.(1141-1143)ctC>ctG	p.L381L	PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Silent_p.L272L|PTCD2_ENST00000536805.1_Silent_p.L209L	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	381										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TCCAGCCACTCAGCCAGTCCC	0.517000													5	15					0	0	0.000602	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098992	220098992	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220098992G>A	ENST00000323348.5	+	9	1360	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	ANKZF1_ENST00000409849.1_Missense_Mutation_p.E186K|ANKZF1_ENST00000410034.3_Missense_Mutation_p.E396K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	396						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCAGAATGAGGAATCTCC	0.438000													24	67					0	0	0.005443	0	0
PLCE1	51196	broad.mit.edu	37	10	96005912	96005912	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:96005912C>G	ENST00000260766.3	+	8	3264	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	PLCE1_ENST00000371375.1_Missense_Mutation_p.S569C|PLCE1_ENST00000371380.2_Missense_Mutation_p.S877C|PLCE1_ENST00000371385.3_Missense_Mutation_p.S569C	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	877					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACACACCTCTCTGCCCGCTGC	0.582000													3	49					0	0	0.004672	0	0
NHSL2	340527	broad.mit.edu	37	X	71359916	71359916	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:71359916G>C	ENST00000373677.1	+	2	2682	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	NHSL2_ENST00000510661.1_Missense_Mutation_p.E609Q|NHSL2_ENST00000540800.1_Missense_Mutation_p.E840Q|NHSL2_ENST00000535692.1_Missense_Mutation_p.E474Q			F5H593	F5H593_HUMAN	NHS-like 2	840										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAGCAAGTCTGAGCCGGAAGA	0.522000													7	15					0	0	0.001984	0	0
TICRR	90381	broad.mit.edu	37	15	90135363	90135363	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:90135363C>G	ENST00000268138.7	+	5	1602	c.1497C>G	c.(1495-1497)ttC>ttG	p.F499L	TICRR_ENST00000560985.1_Missense_Mutation_p.F498L					TOPBP1-interacting checkpoint and replication regulator																		GGTTTCCTTTCTGTAACATCA	0.443000													3	45					0	0	0.000248	0	0
C17orf74	201243	broad.mit.edu	37	17	7330298	7330298	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:7330298C>T	ENST00000333870.3	+	3	1062	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	330						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTCGGTGTCCCGGAACGCCCG	0.692000													16	37					0	0	0.008871	0	0
RIPK4	54101	broad.mit.edu	37	21	43165984	43165984	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:43165984C>T	ENST00000352483.2	-	7	1079	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	RIPK4_ENST00000544709.1_Missense_Mutation_p.D228N|RIPK4_ENST00000542057.1_Missense_Mutation_p.D228N|RIPK4_ENST00000332512.3_Missense_Mutation_p.D291N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	291						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACTTCGTCATCAGGCTTTTCA	0.522000													31	68					0	0	0.003271	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480793	27480793	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:27480793C>G	ENST00000356183.4	-	32	4908	c.4893G>C	c.(4891-4893)cgG>cgC	p.R1631R	GTF3C1_ENST00000561623.1_Silent_p.R1631R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1631						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTCCATGCTCCGGCGCTTGC	0.602000													15	53					0	0	0.004007	0	0
PNCK	139728	broad.mit.edu	37	X	152936781	152936781	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:152936781C>T	ENST00000393831.2	-	7	1076	c.642G>A	c.(640-642)aaG>aaA	p.K214K	PNCK_ENST00000340888.3_Silent_p.K191K|PNCK_ENST00000447676.2_Silent_p.K274K|PNCK_ENST00000370150.1_Silent_p.K191K|PNCK_ENST00000370145.4_Silent_p.K208K|PNCK_ENST00000370142.1_Silent_p.K214K	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	191	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTACGGCCTTCCCGTAGG	0.642000													4	38					0	0	0.000248	0	0
NSUN2	54888	broad.mit.edu	37	5	6605463	6605463	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:6605463C>T	ENST00000264670.6	-	15	1971	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	NSUN2_ENST00000506139.1_Missense_Mutation_p.E519K|NSUN2_ENST00000539938.1_Missense_Mutation_p.E318K	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	554						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TTCTTCCCTTCTGTAGTCCGA	0.423000													22	155					0	0	0.002299	0	0
DIS3L2	129563	broad.mit.edu	37	2	233164768	233164768	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:233164768C>G	ENST00000325385.7	+	14	1954	c.1678C>G	c.(1678-1680)Ctg>Gtg	p.L560V	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.L560V	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	560							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGCTTTCACTCTGGACCACGA	0.423000													9	37					0	0	0.004482	0	0
MOK	5891	broad.mit.edu	37	14	102732245	102732245	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:102732245C>G	ENST00000361847.2	-	3	358	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Intron|MOK_ENST00000522874.1_Missense_Mutation_p.E43Q	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	43	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										TTGACTTGCTCAATACTATCG	0.378000													6	32					0	0	0.003080	0	0
SSX2IP	117178	broad.mit.edu	37	1	85127939	85127939	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:85127939G>A	ENST00000437941.2	-	7	1140	c.788C>T	c.(787-789)tCt>tTt	p.S263F	SSX2IP_ENST00000370612.4_Missense_Mutation_p.S290F|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S263F|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.S290F	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	290					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGAAAGAAGAGAAATCATTTC	0.338000													13	122					0	0	0.002450	0	0
ADAM20	8748	broad.mit.edu	37	14	70991307	70991307	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:70991307C>A	ENST00000256389.3	-	2	562	c.318G>T	c.(316-318)aaG>aaT	p.K106N	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	56					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATCCAGGAGCCTTTGCACCTC	0.522000													22	69					1.50039e-11	2.66776e-11	0.001882	1	0
CRTAP	10491	broad.mit.edu	37	3	33171442	33171442	+	Missense_Mutation	SNP	G	G	C	rs137853945		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:33171442G>C	ENST00000320954.6	+	4	904	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Intron	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	269						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TCATTATGTAGAAGTTCTGGA	0.373000													4	49					0	0	0.000248	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150636160	150636160	+	Missense_Mutation	SNP	C	C	T	rs150623963		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:150636160C>T	ENST00000271732.3	-	3	307	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	88						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAGATAGATTCGACCCCGCAT	0.502000													23	61					0	0	0.002780	0	0
IGSF10	285313	broad.mit.edu	37	3	151154852	151154852	+	Silent	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:151154852A>G	ENST00000282466.3	-	6	7496	c.7497T>C	c.(7495-7497)taT>taC	p.Y2499Y	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2499	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCTCTGTCATAAGCTGTTG	0.393000													8	167					0	0	0.003080	0	0
C10orf137	26098	broad.mit.edu	37	10	127409947	127409947	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:127409947C>G	ENST00000337623.3	+	2	388	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	C10orf137_ENST00000356792.4_Missense_Mutation_p.L95V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	95			L -> F (in a colorectal cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.L95F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACTACCATTCTTGGCAACAG	0.438000													10	53					0	0	0.000978	0	0
NOC3L	64318	broad.mit.edu	37	10	96109029	96109029	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:96109029C>G	ENST00000371361.3	-	10	1335	c.1235G>C	c.(1234-1236)aGa>aCa	p.R412T	NOC3L_ENST00000543788.1_Missense_Mutation_p.R150T|NOC3L_ENST00000371350.1_Missense_Mutation_p.R412T|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	412						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTCGTAATTTCTGCCCTTCAC	0.328000													13	45					0	0	0.001368	0	0
ZACN	353174	broad.mit.edu	37	17	74077661	74077661	+	Silent	SNP	C	C	T	rs143332874		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:74077661C>T	ENST00000334586.5	+	7	788	c.705C>T	c.(703-705)atC>atT	p.I235I	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	235	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGTCCATCATCGCTCTCTTGG	0.642000													31	98					0	0	0.001786	0	0
WDR17	116966	broad.mit.edu	37	4	177041161	177041161	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:177041161G>T	ENST00000393643.2	+	4	703	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	WDR17_ENST00000507824.2_Missense_Mutation_p.D175Y|WDR17_ENST00000280190.4_Missense_Mutation_p.D175Y|WDR17_ENST00000508596.1_Missense_Mutation_p.D151Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	175										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTCTTGTCTGATATCTGTAT	0.408000													32	87					1.88708e-17	3.42063e-17	0.008361	1	0
ANKZF1	55139	broad.mit.edu	37	2	220098917	220098917	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220098917G>C	ENST00000323348.5	+	9	1285	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	ANKZF1_ENST00000409849.1_Missense_Mutation_p.E161Q|ANKZF1_ENST00000410034.3_Missense_Mutation_p.E371Q	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	371						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACAGTAAGAGAGGAGAGAAA	0.458000													11	31					0	0	0.008291	0	0
TMEM168	64418	broad.mit.edu	37	7	112424433	112424433	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:112424433G>A	ENST00000312814.5	-	2	1008	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	TMEM168_ENST00000454074.1_Missense_Mutation_p.R150W	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	150						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AAAGTGGGCCGATGACGGACA	0.408000													7	60					0	0	0.001984	0	0
ETS2	2114	broad.mit.edu	37	21	40193623	40193623	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:40193623G>A	ENST00000360214.3	+	10	1649	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	ETS2_ENST00000360938.3_Missense_Mutation_p.D397N	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	397					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CGCCGACCCCGATGAGGTATG	0.507000													34	88					0	0	0.007835	0	0
ZNF521	25925	broad.mit.edu	37	18	22805237	22805237	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:22805237G>C	ENST00000361524.3	-	4	2793	c.2645C>G	c.(2644-2646)tCt>tGt	p.S882C	ZNF521_ENST00000538137.2_Missense_Mutation_p.S882C|ZNF521_ENST00000584787.1_Missense_Mutation_p.S662C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	882					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CATAGGCTCAGAGGTGTCAAC	0.532000			T	PAX5	ALL								18	69					0	0	0.006122	0	0
PTPRB	5787	broad.mit.edu	37	12	70963581	70963581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:70963581G>A	ENST00000334414.6	-	14	3552	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*	PTPRB_ENST00000261266.5_Nonsense_Mutation_p.Q952*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.Q1169*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Q862*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Q862*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Q1082*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Q952*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	952	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAATAGTCTGAGAGTCAACC	0.547000													12	55					0	0	0.001368	0	0
GCNT3	9245	broad.mit.edu	37	15	59911580	59911580	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:59911580C>G	ENST00000396065.1	+	3	1591	c.1143C>G	c.(1141-1143)ccC>ccG	p.P381P	GCNT3_ENST00000560585.1_Silent_p.P381P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	381					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTATGCTCCCTGCTCTGGAA	0.522000													37	122					0	0	0.005524	0	0
DDX11	1663	broad.mit.edu	37	12	31255377	31255377	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:31255377G>C	ENST00000407793.2	+	23	2539	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	DDX11_ENST00000545668.1_Missense_Mutation_p.R763T|DDX11_ENST00000542838.1_Missense_Mutation_p.R763T|DDX11_ENST00000350437.4_Missense_Mutation_p.R713T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.R737T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	763					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCCAGGAGAGAGGCCAGGTG	0.562000										Multiple Myeloma(12;0.14)			28	98					0	0	0.002445	0	0
EPPK1	83481	broad.mit.edu	37	8	144942096	144942096	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:144942096C>T	ENST00000525985.1	-	2	5397	c.5326G>A	c.(5326-5328)Gtg>Atg	p.V1776M				P58107	EPIPL_HUMAN	epiplakin 1	1776						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATTGCAACACGTGTCTCGTG	0.527000													6	65					0	0	0.001984	0	0
POLR2F	5435	broad.mit.edu	37	22	38437089	38437089	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:38437089G>A	ENST00000407936.1	+	6	558	c.467G>A	c.(466-468)aGa>aAa	p.R156K				P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	0					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					cggcggctcagagaggagtga	0.527000													36	151					0	0	0.006230	0	0
PCNX	22990	broad.mit.edu	37	14	71576209	71576209	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:71576209C>G	ENST00000304743.2	+	35	7231	c.6785C>G	c.(6784-6786)tCt>tGt	p.S2262C	PCNX_ENST00000238570.5_Missense_Mutation_p.S2190C|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.S2151C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2262						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCAACCTGTCTAAAAGGAAA	0.408000													11	37					0	0	0.008291	0	0
ATP1A3	478	broad.mit.edu	37	19	42482830	42482830	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:42482830G>A	ENST00000545399.1	-	12	1750	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	ATP1A3_ENST00000543770.1_Silent_p.L531L|ATP1A3_ENST00000302102.5_Silent_p.L520L|ATP1A3_ENST00000602133.1_Silent_p.L490L	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	520					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCCTCGTCCAGAGGCTGCTCC	0.657000													19	89					0	0	0.007413	0	0
OR5B17	219965	broad.mit.edu	37	11	58125821	58125821	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:58125821G>C	ENST00000357377.3	-	1	721	c.722C>G	c.(721-723)tCt>tGt	p.S241C		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATGAGGTGAGAACCACAGGT	0.393000													8	29					0	0	0.003080	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686993	151686993	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:151686993T>C	ENST00000325144.4	-	3	1348	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGCAGCCTGGTTGGCCCTGCA	0.517000													19	51					0	0	0.007413	0	0
MUC17	140453	broad.mit.edu	37	7	100678577	100678577	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:100678577G>A	ENST00000306151.4	+	3	3944	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1294	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCAGTCCTGAGGCTAGCAC	0.473000													107	407					0	0	0.003610	0	0
TECRL	253017	broad.mit.edu	37	4	65274945	65274945	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:65274945G>A	ENST00000381210.3	-	1	235	c.125C>T	c.(124-126)tCa>tTa	p.S42L	TECRL_ENST00000507440.1_Missense_Mutation_p.S42L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	42					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGGGCCCGCTGAGAGTACAAG	0.393000													8	28					0	0	0.004482	0	0
MAZ	4150	broad.mit.edu	37	16	29821426	29821426	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:29821426G>A	ENST00000322945.6	+	5	1473	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000568544.1_Silent_p.A37A|MAZ_ENST00000562337.1_Silent_p.A131A|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000545521.1_Silent_p.A413A	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	436	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CAATggcggcggcagcggcag	0.667000													15	41					0	0	0.006122	0	0
SBSN	374897	broad.mit.edu	37	19	36018688	36018688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:36018688C>A	ENST00000452271.2	-	1	524	c.496G>T	c.(496-498)Gag>Tag	p.E166*	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	165	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCCAGCCTCATTTCCAGCC	0.632000													5	42					0.000602214	0.00101735	0.000602	1	0
TIE1	7075	broad.mit.edu	37	1	43778211	43778211	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:43778211C>G	ENST00000372476.3	+	12	1945	c.1866C>G	c.(1864-1866)ctC>ctG	p.L622L	TIE1_ENST00000433781.2_Silent_p.L267L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	622	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L622L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGTGCAGCTCTACCACTGCA	0.692000													5	86					0	0	0.001168	0	0
PRX	57716	broad.mit.edu	37	19	40900746	40900746	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:40900746C>G	ENST00000324001.7	-	7	3783	c.3513G>C	c.(3511-3513)caG>caC	p.Q1171H	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1171	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGACTGTACTCTGAGCCTGCT	0.662000													4	132					0	0	0.000248	0	0
OR7G3	390883	broad.mit.edu	37	19	9237045	9237045	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:9237045G>A	ENST00000305444.2	-	1	581	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGATGTTATTGATGAGGACAT	0.443000													23	67					0	0	0.001882	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104378	26104378	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:26104378G>C	ENST00000377803.2	+	1	275	c.203G>C	c.(202-204)cGa>cCa	p.R68P		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	68					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R68P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AACGTTATTCGAGACGCCGTC	0.527000													10	46					0	0	0.008291	0	0
VASH1	22846	broad.mit.edu	37	14	77239553	77239553	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:77239553A>G	ENST00000554237.1	+	4	1022	c.529A>G	c.(529-531)Atg>Gtg	p.M177V	VASH1_ENST00000167106.4_Splice_Site_p.I177_splice|VASH1_ENST00000556038.1_3'UTR			Q7L8A9	VASH1_HUMAN	vasohibin 1	177					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GATCCTGGGAATGTATCCTTC	0.582000													12	35					0	0	0.001855	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61915227	61915227	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:61915227G>A	ENST00000353546.3	+	10	802	c.742G>A	c.(742-744)Gag>Aag	p.E248K	ARFGAP1_ENST00000519273.2_Intron|ARFGAP1_ENST00000370283.4_Intron|ARFGAP1_ENST00000370275.4_Intron|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E195K|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E174K	NM_175609.1	NP_783202.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	239					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GCAGCAGCCGGAGCCGGTAAA	0.602000													27	128					0	0	0.002836	0	0
XPO5	57510	broad.mit.edu	37	6	43538730	43538730	+	Splice_Site	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:43538730C>T	ENST00000265351.7	-	4	512	c.300_splice	c.e4-1	p.G101_splice		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	101	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTCAATGTTCCCTGAAAAAG	0.408000													5	127					0	0	0.001984	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10917766	10917766	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:10917766T>C	ENST00000272238.4	+	11	990	c.881T>C	c.(880-882)gTt>gCt	p.V294A	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	294					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GACCACAAGGTTAAGGTAACC	0.512000													17	55					0	0	0.006122	0	0
ADAM20	8748	broad.mit.edu	37	14	70991263	70991263	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:70991263C>G	ENST00000256389.3	-	2	606	c.362G>C	c.(361-363)aGa>aCa	p.R121T	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	71					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GACAATGTATCTCTGTCCCCC	0.532000													23	73					0	0	0.003954	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135795499	135795499	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:135795499C>T	ENST00000250617.6	-	7	1968	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E101K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E128K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E101K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	255	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E255*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTAGCATATTCTTTTTCAGTG	0.328000													24	28					0	0	0.003330	0	0
PPP1R21	129285	broad.mit.edu	37	2	48687279	48687279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:48687279C>T	ENST00000294952.8	+	6	743	c.586C>T	c.(586-588)Cga>Tga	p.R196*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.R196*|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.R196*	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	196										endometrium(2)|kidney(4)|lung(9)	15						ATGTCGACTTCGAACGGAAGA	0.428000													11	21					0	0	0.000978	0	0
DAP3	7818	broad.mit.edu	37	1	155699156	155699156	+	Splice_Site	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:155699156C>G	ENST00000368336.5	+	9	966	c.843_splice	c.e9+1	p.P281_splice	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Splice_Site_p.P281_splice|DAP3_ENST00000421487.2_Splice_Site_p.P247_splice|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Splice_Site_p.P240_splice	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	281					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GATAAAAGCCCGGTAGGAAAA	0.438000													18	59					0	0	0.008871	0	0
CNOT1	23019	broad.mit.edu	37	16	58577583	58577583	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:58577583C>A	ENST00000317147.5	-	31	4694	c.4362G>T	c.(4360-4362)atG>atT	p.M1454I	CNOT1_ENST00000569240.1_Missense_Mutation_p.M1449I|CNOT1_ENST00000245138.4_Missense_Mutation_p.M305I|CNOT1_ENST00000441024.2_Missense_Mutation_p.M1454I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1454					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCATGTAATCATAGCCATTC	0.438000													11	27					6.40141e-05	0.000109132	0.000978	1	0
EPS8L1	54869	broad.mit.edu	37	19	55593493	55593493	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:55593493C>T	ENST00000201647.6	+	10	991	c.935C>T	c.(934-936)tCg>tTg	p.S312L	EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000586329.1_Missense_Mutation_p.S294L|EPS8L1_ENST00000245618.5_Missense_Mutation_p.S185L|EPS8L1_ENST00000540810.1_Missense_Mutation_p.S248L|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	312						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AAGCCGCCCTCGGAGGCCGAG	0.721000													7	6					0	0	0.001984	0	0
LRSAM1	90678	broad.mit.edu	37	9	130263293	130263293	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:130263293G>A	ENST00000323301.4	+	24	2521	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.L639L|LRSAM1_ENST00000373324.4_Silent_p.L612L|LRSAM1_ENST00000300417.6_Silent_p.L639L	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	639					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCACAGAGCTGAAACCACCAA	0.647000													20	71					0	0	0.001523	0	0
MLC1	23209	broad.mit.edu	37	22	50500060	50500060	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:50500060G>A	ENST00000311597.5	-	12	1692	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	MLC1_ENST00000395876.2_Silent_p.F362F|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000450140.2_Silent_p.F310F|MLC1_ENST00000538737.1_Silent_p.F328F|MLC1_ENST00000535444.1_Silent_p.F283F|MLC1_ENST00000431262.2_Silent_p.F332F	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	362						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCTCCTTGTCGAACTCCTTCA	0.652000													12	56					0	0	0.001855	0	0
L2HGDH	79944	broad.mit.edu	37	14	50750625	50750625	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:50750625C>T	ENST00000267436.4	-	5	1064	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	L2HGDH_ENST00000555610.1_3'UTR|L2HGDH_ENST00000555423.1_Missense_Mutation_p.E223K|L2HGDH_ENST00000421284.3_Missense_Mutation_p.E223K|L2HGDH_ENST00000261699.4_Missense_Mutation_p.E223K			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	223					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTAGCCATTTCAATACCTTTT	0.418000													19	55					0	0	0.007413	0	0
ITGA7	3679	broad.mit.edu	37	12	56096885	56096885	+	Missense_Mutation	SNP	G	G	A	rs143749139	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:56096885G>A	ENST00000257880.7	-	2	503	c.284C>T	c.(283-285)cCg>cTg	p.P95L	ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394230.2_Missense_Mutation_p.P95L|ITGA7_ENST00000555728.1_Missense_Mutation_p.P95L|ITGA7_ENST00000347027.6_Missense_Mutation_p.P95L|ITGA7_ENST00000257879.6_Missense_Mutation_p.P95L|ITGA7_ENST00000394229.2_Missense_Mutation_p.P95L|ITGA7_ENST00000553804.1_Missense_Mutation_p.P95L			Q13683	ITA7_HUMAN	integrin, alpha 7	95					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGGCTCAACGGGCAAGCGAA	0.652000													19	61					0	0	0.007413	0	0
ZNF174	7727	broad.mit.edu	37	16	3452340	3452340	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:3452340G>C	ENST00000268655.4	+	1	921	c.336G>C	c.(334-336)atG>atC	p.M112I	ZNF174_ENST00000571936.1_Missense_Mutation_p.M112I|ZNF174_ENST00000344823.5_Missense_Mutation_p.M112I|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Missense_Mutation_p.M112I|ZNF174_ENST00000572544.1_Missense_Mutation_p.M112I	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	112	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GATGTCCAATGAGCAGCAAGG	0.542000													19	57					0	0	0.007413	0	0
G0S2	50486	broad.mit.edu	37	1	209849324	209849324	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:209849324C>T	ENST00000367029.4	+	2	457	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1switch 2	99					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CCTGTCCAACCGGCAGCACGC	0.662000													9	30					0	0	0.006214	0	0
APOB	338	broad.mit.edu	37	2	21231537	21231537	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:21231537C>G	ENST00000233242.1	-	26	8330	c.8203G>C	c.(8203-8205)Gac>Cac	p.D2735H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2735				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGTGAAGGTCAGGAACTTGA	0.418000													22	116					0	0	0.002299	0	0
APLF	200558	broad.mit.edu	37	2	68805097	68805097	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:68805097G>C	ENST00000303795.4	+	10	1650	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	493					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AAGATGAAGAGAAGGAAGATG	0.373000													9	36					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13871062	13871062	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:13871062G>A	ENST00000265104.4	-	24	3752	c.3648C>T	c.(3646-3648)gtC>gtT	p.V1216V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1216	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCGTCCAATGACAACCATCC	0.388000									Kartagener syndrome				14	68					0	0	0.003163	0	0
CNGA4	1262	broad.mit.edu	37	11	6262988	6262988	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:6262988G>A	ENST00000379936.2	+	5	1360	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	CNGA4_ENST00000533426.1_Silent_p.E184E	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	415					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTTGGGGAGATCAGCATCA	0.552000													41	69					0	0	0.006999	0	0
VEPH1	79674	broad.mit.edu	37	3	157146231	157146231	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:157146231C>T	ENST00000362010.2	-	5	883	c.576G>A	c.(574-576)caG>caA	p.Q192Q	VEPH1_ENST00000392833.2_Silent_p.Q192Q|VEPH1_ENST00000392832.2_Silent_p.Q192Q|VEPH1_ENST00000543418.1_Silent_p.Q192Q	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	192						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTGGCTGAGGCTGCTTTTCAT	0.458000													19	59					0	0	0.007413	0	0
C7orf31	136895	broad.mit.edu	37	7	25218826	25218826	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:25218826C>G	ENST00000409280.1	-	2	410	c.102G>C	c.(100-102)caG>caC	p.Q34H	C7orf31_ENST00000283905.3_Missense_Mutation_p.Q34H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	34										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GAGTAACCGTCTGGAGGGGGT	0.428000													14	47					0	0	0.003163	0	0
AFF3	3899	broad.mit.edu	37	2	100625344	100625344	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:100625344C>T	ENST00000317233.4	-	4	339	c.104G>A	c.(103-105)aGa>aAa	p.R35K	AFF3_ENST00000356421.2_Missense_Mutation_p.R60K|AFF3_ENST00000409579.1_Missense_Mutation_p.R60K|AFF3_ENST00000409236.1_Missense_Mutation_p.R35K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	35					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTCTTGATTTCTTCTTTCTCG	0.393000													4	22					0	0	0.000602	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908029	164908029	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:164908029G>C	ENST00000475390.1	-	2	1033	c.590C>G	c.(589-591)tCt>tGt	p.S197C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S197C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	197						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGGGTTAAAGAGACAGCCTT	0.413000										HNSCC(40;0.11)			13	68					0	0	0.002450	0	0
GCC1	79571	broad.mit.edu	37	7	127222320	127222320	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:127222320G>A	ENST00000321407.2	-	2	2500	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	692						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GATGCCGTTCGCCCTCCTCCA	0.582000													18	58					0	0	0.004990	0	0
SPEN	23013	broad.mit.edu	37	1	16261424	16261424	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:16261424C>G	ENST00000375759.3	+	11	8893	c.8689C>G	c.(8689-8691)Cct>Gct	p.P2897A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2897					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAATGCCTCTCCTGTGATTTC	0.582000													9	42					0	0	0.006214	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889439	89889439	+	RNA	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:89889439delG	ENST00000513638.1	+	0	557					NR_003133.2																						GCTTACAGCCGTCTCCTACTT	0.473													7	57	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159912846	159912846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:159912846delG	ENST00000368094.1	-	3	351	c.154delC	c.(154-156)tgfs	p.L52fs	IGSF9_ENST00000361509.3_Frame_Shift_Del_p.L52fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	52	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGACATGCAgggggggccgg	0.637													10	61	---	---	---	---					
FASLG	356	broad.mit.edu	37	1	172633495	172633495	+	Frame_Shift_Del	DEL	A	A	-	rs35774809		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:172633495delA	ENST00000367721.2	+	3	600	c.416delA	c.(415-417)gafs	p.E139fs	FASLG_ENST00000340030.3_Frame_Shift_Del_p.K125fs	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	139					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CCACCCCCTGAAAAAAAGGAG	0.408													7	39	---	---	---	---					
GTF3C2	2976	broad.mit.edu	37	2	27559195	27559195	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:27559195delC	ENST00000359541.2	-	8	1654	c.1225delG	c.(1225-1227)cafs	p.A409fs	AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000416453.2_RNA|GTF3C2_ENST00000264720.3_Frame_Shift_Del_p.A409fs			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	409						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGCTCCTGCCCCCTCTGGC	0.592													8	128	---	---	---	---					
FER1L5	90342	broad.mit.edu	37	2	97363189	97363189	+	RNA	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:97363189delC	ENST00000457909.1	+	0	3586							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTGGCCTCAACCCCCCTCTCC	0.517													4	8	---	---	---	---					
PCGF3	10336	broad.mit.edu	37	4	728799	728799	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:728799delC	ENST00000362003.5	+	5	584	c.189delC	c.(187-189)cafs	p.H63fs	PCGF3_ENST00000470161.2_Frame_Shift_Del_p.H63fs|PCGF3_ENST00000505655.2_Frame_Shift_Del_p.H63fs|PCGF3_ENST00000521023.2_Frame_Shift_Del_p.H29fs	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	p.L65fs*26(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						ACCAGAGCCACCCCCTGCAGT	0.607													11	27	---	---	---	---					
FRYL	285527	broad.mit.edu	37	4	48608509	48608509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:48608509delA	ENST00000358350.4	-	10	1291	c.687delT	c.(685-687)ttfs	p.F229fs	FRYL_ENST00000507711.1_Frame_Shift_Del_p.F229fs|FRYL_ENST00000537810.1_Frame_Shift_Del_p.F229fs|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Frame_Shift_Del_p.F229fs	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTTTACTCGAAAAAATTTCA	0.348													11	24	---	---	---	---					
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)tfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431													22	75	---	---	---	---					
LEPROTL1	23484	broad.mit.edu	37	8	29961841	29961841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:29961841delT	ENST00000321250.8	+	3	233	c.118delT	c.(118-120)ttfs	p.F41fs	LEPROTL1_ENST00000518001.1_5'UTR|LEPROTL1_ENST00000523116.1_Frame_Shift_Del_p.F41fs|LEPROTL1_ENST00000518192.1_Frame_Shift_Del_p.F64fs|LEPROTL1_ENST00000442880.2_Frame_Shift_Del_p.F41fs	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	41						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CTTTGTTCTATTTTTTTACAT	0.323													10	68	---	---	---	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)cat>cTCTat	p.143_143H>LY		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													4	5	---	---	---	---					
LCOR	84458	broad.mit.edu	37	10	98715469	98715469	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:98715469delA	ENST00000540664.1	+	8	1635	c.1092delA	c.(1090-1092)ggfs	p.G364fs	LCOR_ENST00000371103.3_Frame_Shift_Del_p.G364fs|LCOR_ENST00000356016.3_Frame_Shift_Del_p.G364fs|LCOR_ENST00000371097.4_Frame_Shift_Del_p.G364fs|LCOR_ENST00000498444.1_Intron	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TTATGAGTGGAAAAATGAGTG	0.468													9	57	---	---	---	---					
SIRT3	23410	broad.mit.edu	37	11	236149	236149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:236149delG	ENST00000382743.4	-	1	282	c.180delC	c.(178-180)ccfs	p.P60fs	SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000524564.1_Frame_Shift_Del_p.P60fs|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.P60fs|SIRT3_ENST00000528702.1_Intron|SIRT3_ENST00000529382.1_Intron	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	60					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCGGGTCCAAGGGCTCACCGC	0.701													2	4	---	---	---	---					
ILK	3611	broad.mit.edu	37	11	6629392	6629392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:6629392delC	ENST00000396751.2	+	2	662	c.206delC	c.(205-207)acfs	p.T69fs	ILK_ENST00000420936.2_Frame_Shift_Del_p.T69fs|ILK_ENST00000528995.1_Frame_Shift_Del_p.T69fs|ILK_ENST00000299421.4_Frame_Shift_Del_p.T69fs|ILK_ENST00000537806.1_Intron	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	69	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	p.L71fs*26(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGGGATGACACCCCCCTGCAT	0.557													14	52	---	---	---	---					
CCDC73	493860	broad.mit.edu	37	11	32635181	32635181	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:32635181delT	ENST00000335185.5	-	16	2726	c.2683delA	c.(2683-2685)ctfs	p.T895fs		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	895										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTTTCTCAGTTTTTTTATCT	0.403													13	101	---	---	---	---					
FOLR1	2348	broad.mit.edu	37	11	71903275	71903275	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:71903275delG	ENST00000393679.1	+	2	494	c.58delG	c.(58-60)ggfs	p.G20fs	FOLR1_ENST00000393676.3_Frame_Shift_Del_p.G20fs|FOLR1_ENST00000393681.2_Frame_Shift_Del_p.G20fs|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Frame_Shift_Del_p.G20fs			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	20					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GGCTGTAGTAGGGGAGGCTCA	0.552													18	129	---	---	---	---					
YAP1	10413	broad.mit.edu	37	11	101981721	101981721	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:101981721delC	ENST00000282441.5	+	1	530	c.142delC	c.(142-144)ccfs	p.P49fs	YAP1_ENST00000531439.1_Frame_Shift_Del_p.P49fs|YAP1_ENST00000345877.2_Frame_Shift_Del_p.P49fs|YAP1_ENST00000526343.1_Frame_Shift_Del_p.P49fs|YAP1_ENST00000537274.1_Frame_Shift_Del_p.P49fs	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	49	Pro-rich.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	p.A50fs*62(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GCCGCAGGCACCCCCCGCCGG	0.761													5	9	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26714879	26714879	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:26714879delT	ENST00000381340.3	-	35	5053	c.4637delA	c.(4636-4638)atfs	p.N1546fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1546					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATTCCACGATTTTTTGCTGA	0.318													7	44	---	---	---	---					
CHAMP1	283489	broad.mit.edu	37	13	115090767	115090767	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:115090767delT	ENST00000361283.1	+	3	1759	c.1450delT	c.(1450-1452)ttfs	p.F485fs		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	485	Mediates interaction with MAD2L2.|Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										GAAGTCTTCCTTTTTTATTGA	0.507													20	488	---	---	---	---					
STRC	161497	broad.mit.edu	37	15	43910158	43910158	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:43910158delG	ENST00000450892.2	-	2	538	c.461delC	c.(460-462)ctfs	p.P154fs	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	154					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)		AGTTGGGGTAGGGGGGCCCCC	0.642													13	128	---	---	---	---					
SLTM	79811	broad.mit.edu	37	15	59186129	59186129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:59186129delT	ENST00000380516.2	-	12	1626	c.1539delA	c.(1537-1539)aafs	p.K513fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.K82fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	513					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTTGCTTTCTTTTTTTTCAG	0.358													8	82	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89352507	89352508	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:89352507_89352508insG	ENST00000301030.4	-	8	1291_1292	c.831_832insC	c.(829-834)cccgatfs	p.D278fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D278fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	278						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCACCATCGTGGGGGAGTTGG	0.574													47	152	---	---	---	---					
ABR	29	broad.mit.edu	37	17	1028559	1028559	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:1028559delC	ENST00000544583.2	-	2	666	c.67delG	c.(67-69)atfs	p.D23fs	ABR_ENST00000302538.5_Frame_Shift_Del_p.D69fs|ABR_ENST00000574437.1_Frame_Shift_Del_p.D23fs	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	69					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GAGACGCCATCCCCCCCGCCC	0.677													17	73	---	---	---	---					
GPR179	440435	broad.mit.edu	37	17	36486166	36486166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:36486166delG	ENST00000342292.4	-	11	3306	c.3286delC	c.(3286-3288)gtfs	p.R1096fs		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1096						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCGAGAACGGGTCAGAGCT	0.612													15	57	---	---	---	---					
NDC80	10403	broad.mit.edu	37	18	2578095	2578096	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:2578095_2578096delAC	ENST00000261597.4	+	5	613_614	c.431_432delAC	c.(430-432)gfs	p.D144fs	NDC80_ENST00000576274.1_3'UTR	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	144	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAACTTCCTGACACAAAGTTTG	0.386													23	79	---	---	---	---					
PTPN2	5771	broad.mit.edu	37	18	12814324	12814325	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:12814324_12814325insT	ENST00000309660.5	-	7	828_829	c.735_736insA	c.(733-738)aaaagtfs	p.S246fs	PTPN2_ENST00000353319.4_Frame_Shift_Ins_p.S246fs|PTPN2_ENST00000327283.3_Frame_Shift_Ins_p.S246fs|PTPN2_ENST00000591115.1_Frame_Shift_Ins_p.S269fs|PTPN2_ENST00000591497.1_Frame_Shift_Ins_p.S217fs	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	246	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AGTAACACTTGTTTTATGTTAA	0.356													8	25	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38885397	38885397	+	Frame_Shift_Del	DEL	C	C	-	rs142553701	by1000genomes	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:38885397delC	ENST00000587013.1	+	4	748	c.670delC	c.(670-672)ccfs	p.P225fs	SPRED3_ENST00000338502.4_Frame_Shift_Del_p.P181fs|SPRED3_ENST00000586301.1_Frame_Shift_Del_p.P181fs			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	181	KBD.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCGACCACGCCCCCCCAGCG	0.731													4	9	---	---	---	---