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
HIF1A	3091	broad.mit.edu	37	14	62204942	62204942	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr14:62204942C>T	ENST00000394997.1	+	10	1655	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Nonsense_Mutation_p.R463*|HIF1A_ENST00000539097.1_Nonsense_Mutation_p.R487*|HIF1A_ENST00000557538.1_Nonsense_Mutation_p.R404*|HIF1A_ENST00000337138.4_Nonsense_Mutation_p.R463*|RP11-618G20.1_ENST00000555937.1_RNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	463	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AAAGCCACTTCGAAGTAGTGC	0.408000													16	124					0	0	0.146539	0	0
ZNF507	22847	broad.mit.edu	37	19	32843954	32843954	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:32843954C>G	ENST00000311921.4	+	2	410	c.218C>G	c.(217-219)tCa>tGa	p.S73*	ZNF507_ENST00000544431.1_Nonsense_Mutation_p.S73*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.S73*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CGCCCACGTTCAAGTGCTGCA	0.408000													18	52					0	0	0.033300	0	0
CACNA1D	776	broad.mit.edu	37	3	53769491	53769491	+	Silent	SNP	C	C	T	rs148699423		TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:53769491C>T	ENST00000288139.4	+	21	2890	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	CACNA1D_ENST00000422281.2_Silent_p.A904A|CACNA1D_ENST00000350061.5_Silent_p.A904A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGCCCTGGCCGCAGAGGACC	0.627000													23	40					0	0	0.062417	0	0
TCF21	6943	broad.mit.edu	37	6	134210650	134210650	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:134210650G>A	ENST00000367882.4	+	1	375	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E39K	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	39					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CGAGAGCACCGAGGAGAGCTC	0.587000													46	15					0	0	0.139131	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532818	84532818	+	RNA	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr9:84532818G>C	ENST00000527857.1	+	0	2840					NR_026851.1																						CAAATCGGAAGAGGATATTTC	0.438000													15	5					0	0	0.119110	0	0
FAM65C	140876	broad.mit.edu	37	20	49209003	49209003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:49209003G>A	ENST00000327979.2	-	19	2854	c.2443C>T	c.(2443-2445)Cag>Tag	p.Q815*	FAM65C_ENST00000535356.1_Nonsense_Mutation_p.Q819*|FAM65C_ENST00000045083.2_Nonsense_Mutation_p.Q815*			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	815										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCAGAGGCTGGAGCTGGCCC	0.657000													18	31					0	0	0.038395	0	0
KDM5A	5927	broad.mit.edu	37	12	402040	402040	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:402040C>T	ENST00000399788.2	-	27	5113	c.4751G>A	c.(4750-4752)aGa>aAa	p.R1584K	KDM5A_ENST00000540838.1_5'UTR|KDM5A_ENST00000382815.4_Missense_Mutation_p.R1584K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1584	Lys-rich.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTTTTCTCTCTTTTCTTTTC	0.463000			T	NUP98	AML								16	288					0	0	0.146539	0	0
MAPK12	6300	broad.mit.edu	37	22	50695570	50695570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:50695570C>A	ENST00000215659.8	-	4	682	c.367G>T	c.(367-369)Gag>Tag	p.E123*	MAPK12_ENST00000395780.1_Nonsense_Mutation_p.E43*|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	123	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTAGCTTCTCATGTTTCATG	0.652000													11	39					0.0135373	0.0136887	0.093190	1	0
HAS1	3036	broad.mit.edu	37	19	52220373	52220373	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:52220373C>T	ENST00000540069.2	-	3	833	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	HAS1_ENST00000222115.1_Missense_Mutation_p.R259Q|HAS1_ENST00000601714.1_Missense_Mutation_p.R266Q|HAS1_ENST00000594621.1_Missense_Mutation_p.R113Q			Q92839	HAS1_HUMAN	hyaluronan synthase 1	259					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCCCCTACCCGGGGGTCCTC	0.612000													30	121					0	0	0.134883	0	0
C7orf63	79846	broad.mit.edu	37	7	89900872	89900872	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:89900872C>G	ENST00000389297.4	+	7	816	c.565C>G	c.(565-567)Caa>Gaa	p.Q189E	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Missense_Mutation_p.Q171E|C7orf63_ENST00000316089.8_Missense_Mutation_p.Q189E	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	189							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATACAAGATTCAAATGGCTGA	0.348000													20	96					0	0	0.091800	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537402	5537402	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:5537402G>A	ENST00000380184.1	-	1	533	c.270C>T	c.(268-270)atC>atT	p.I90I	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	90	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGCCATCCATGATGCCCCTCT	0.537000													26	28					0	0	0.108266	0	0
MBD6	114785	broad.mit.edu	37	12	57922070	57922070	+	Silent	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:57922070C>G	ENST00000355673.3	+	10	2903	c.2547C>G	c.(2545-2547)ctC>ctG	p.L849L	MBD6_ENST00000431731.2_Silent_p.L849L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	849						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGAGCTGCTCACTGGGAGGG	0.692000													13	28					0	0	0.105934	0	0
ALAS1	211	broad.mit.edu	37	3	52233317	52233317	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:52233317G>C	ENST00000394965.2	+	3	420	c.60G>C	c.(58-60)caG>caC	p.Q20H	ALAS1_ENST00000469224.1_Missense_Mutation_p.Q20H|ALAS1_ENST00000484952.1_Missense_Mutation_p.Q20H|ALAS1_ENST00000310271.2_Missense_Mutation_p.Q20H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	20					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTTTCTGCAGAAAGCAGGCA	0.542000													20	29					0	0	0.062417	0	0
SP140	11262	broad.mit.edu	37	2	231152636	231152636	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:231152636T>G	ENST00000392045.3	+	18	1789	c.1675T>G	c.(1675-1677)Ttc>Gtc	p.F559V	SP140_ENST00000420434.3_Missense_Mutation_p.F532V|SP140_ENST00000486687.2_Missense_Mutation_p.F483V|SP140_ENST00000350136.5_Missense_Mutation_p.F428V|SP140_ENST00000417495.3_Missense_Mutation_p.F445V|SP140_ENST00000343805.6_Missense_Mutation_p.F499V	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	559					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAACCCGCTTCACTCAGAG	0.378000													3	8					0	0	0.115264	0	0
ZNF470	388566	broad.mit.edu	37	19	57085822	57085822	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:57085822G>A	ENST00000330619.8	+	4	806	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ZNF470_ENST00000601902.1_Silent_p.L40L|ZNF470_ENST00000391709.3_Silent_p.L40L	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GGGAGTGGCTGAATCTTGCTC	0.433000													82	28					0	0	0.139131	0	0
GBP5	115362	broad.mit.edu	37	1	89735097	89735097	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:89735097G>A	ENST00000343435.5	-	3	678	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.R48C	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	48						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGCCAGTGCGATAGAGGCCC	0.498000													35	73					0	0	0.059317	0	0
MED24	9862	broad.mit.edu	37	17	38179390	38179390	+	Silent	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:38179390C>G	ENST00000394126.1	-	19	2737	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	MED24_ENST00000356271.3_Silent_p.L735L|MED24_ENST00000501516.3_Silent_p.L767L|MED24_ENST00000394127.2_Silent_p.L735L|MED24_ENST00000394128.2_Silent_p.L748L			O75448	MED24_HUMAN	mediator complex subunit 24	748					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GTACCTTAATCAGGTTGTTGC	0.622000													10	25					0	0	0.058154	0	0
CACNB2	783	broad.mit.edu	37	10	18439885	18439885	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:18439885C>T	ENST00000282343.8	+	2	332	c.110C>T	c.(109-111)tCa>tTa	p.S37L	CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000324631.7_Missense_Mutation_p.S65L|CACNB2_ENST00000377331.2_Missense_Mutation_p.S37L|CACNB2_ENST00000377328.1_Missense_Mutation_p.S65L|CACNB2_ENST00000352115.6_Missense_Mutation_p.S65L	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	65					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GATACTACCTCAAATAGTTTT	0.308000													16	131					0	0	0.146539	0	0
MMAA	166785	broad.mit.edu	37	4	146576534	146576534	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:146576534C>A	ENST00000281317.5	+	7	2415	c.1205C>A	c.(1204-1206)tCc>tAc	p.S402Y	MMAA_ENST00000541599.1_Missense_Mutation_p.S121Y	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	402						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGGCCCTGTCCCCAGGACTA	0.393000													31	251					6.90743e-12	7.22721e-12	0.064281	1	0
TTF2	8458	broad.mit.edu	37	1	117617552	117617552	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:117617552C>T	ENST00000369466.4	+	5	390	c.346C>T	c.(346-348)Cat>Tat	p.H116Y		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGAGACATTTCATCATTCTTC	0.353000													17	44					0	0	0.146539	0	0
QPCTL	54814	broad.mit.edu	37	19	46206245	46206245	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:46206245C>A	ENST00000012049.5	+	7	1308	c.1087C>A	c.(1087-1089)Ccc>Acc	p.P363T	QPCTL_ENST00000366382.4_Missense_Mutation_p.P269T	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	363					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TCTCCACCCACCCACGGTACA	0.592000													25	114					7.92952e-12	8.27747e-12	0.091800	1	0
HDAC10	83933	broad.mit.edu	37	22	50686424	50686424	+	Missense_Mutation	SNP	C	C	T	rs144952453	byFrequency	TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:50686424C>T	ENST00000216271.5	-	13	1584	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	HDAC10_ENST00000349505.4_Missense_Mutation_p.R391H|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.R361H	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	411					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AACAGCGGTGCGGACAGAGGG	0.642000													15	30					0	0	0.033300	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	42					0	0	0.009096	0	0
OR2T33	391195	broad.mit.edu	37	1	248436541	248436541	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:248436541G>A	ENST00000318021.2	-	1	597	c.576C>T	c.(574-576)gtC>gtT	p.V192V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGTTTTCGAAGACTGAAGTGT	0.522000													9	49					0	0	0.069288	0	0
DPRX	503834	broad.mit.edu	37	19	54140101	54140101	+	Silent	SNP	T	T	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:54140101T>A	ENST00000376650.1	+	3	486	c.435T>A	c.(433-435)atT>atA	p.I145I		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ATGACTTCATTGGCCACAGAA	0.522000													18	210					0	0	0.043863	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23401204	23401204	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:23401204G>A	ENST00000258729.3	-	5	706	c.350C>T	c.(349-351)tCg>tTg	p.S117L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	117	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.S117Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TGCAGTTTCCGAGTCAGTGTT	0.333000													27	72					0	0	0.144211	0	0
COPA	1314	broad.mit.edu	37	1	160267169	160267169	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:160267169A>G	ENST00000241704.7	-	21	2456	c.2227T>C	c.(2227-2229)Tca>Cca	p.S743P	COPA_ENST00000368069.3_Missense_Mutation_p.S752P	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	743					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACACGCTCTGACACATCACCC	0.458000													11	101					0	0	0.080935	0	0
GTF2H4	2968	broad.mit.edu	37	6	30879010	30879010	+	Silent	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:30879010C>G	ENST00000259895.4	+	7	859	c.636C>G	c.(634-636)ctC>ctG	p.L212L	GTF2H4_ENST00000376316.2_Silent_p.L212L|GTF2H4_ENST00000539324.1_Silent_p.L156L	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	212					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CGGCTCAGCTCTGGTACTTTA	0.547000								Nucleotide excision repair (NER)					50	9					0	0	0.139131	0	0
OAS3	4940	broad.mit.edu	37	12	113405326	113405326	+	Silent	SNP	A	A	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:113405326A>G	ENST00000228928.7	+	13	2972	c.2793A>G	c.(2791-2793)caA>caG	p.Q931Q	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	931	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CAGAGCTACAACGGGACTTCA	0.577000													7	24					0	0	0.029380	0	0
POU6F2	11281	broad.mit.edu	37	7	39503870	39503870	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:39503870G>A	ENST00000559001.1	+	8	1597	c.1496G>A	c.(1495-1497)gGc>gAc	p.G499D	POU6F2_ENST00000403058.1_Missense_Mutation_p.G554D|POU6F2_ENST00000518318.2_Intron			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	554	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTGAACCCTGGCCTTTTGTAT	0.537000													12	135					0	0	0.093190	0	0
NFKB1	4790	broad.mit.edu	37	4	103537695	103537695	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:103537695C>G	ENST00000226574.4	+	24	3321	c.2854C>G	c.(2854-2856)Ctc>Gtc	p.L952V	NFKB1_ENST00000600343.1_Missense_Mutation_p.L771V|NFKB1_ENST00000394820.4_Missense_Mutation_p.L951V|NFKB1_ENST00000505458.1_Missense_Mutation_p.L951V	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	951	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	ACTGCTAACTCTCAACAAAAT	0.507000													17	58					0	0	0.033300	0	0
RADIL	55698	broad.mit.edu	37	7	4876160	4876160	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:4876160C>T	ENST00000399583.3	-	3	799	c.612G>A	c.(610-612)cgG>cgA	p.R204R	RADIL_ENST00000536091.1_Silent_p.R204R|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	204					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GAGGAGAGCTCCGGGCATCCC	0.716000													13	20					0	0	0.093190	0	0
RNF213	57674	broad.mit.edu	37	17	78343595	78343595	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:78343595C>T	ENST00000582970.1	+	46	12496	c.12353C>T	c.(12352-12354)tCt>tTt	p.S4118F	RNF213_ENST00000336301.6_Missense_Mutation_p.S2191F|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4167F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAATCTCTCTCTCCATTCAAT	0.438000													16	73					0	0	0.033300	0	0
GRPR	2925	broad.mit.edu	37	X	16142334	16142334	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chrX:16142334C>T	ENST00000380289.2	+	1	656	c.258C>T	c.(256-258)gaC>gaT	p.D86D		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	86					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTTTGGGAGACCTGCTCCTCC	0.488000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	17					0	0	0.139131	0	0
MTR	4548	broad.mit.edu	37	1	236976103	236976103	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:236976103A>G	ENST00000366577.5	+	6	962	c.568A>G	c.(568-570)Atc>Gtc	p.I190V	MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.I190V	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	190	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGGGGTTGATATCTTACTCAT	0.453000													39	62					0	0	0.074837	0	0
RACGAP1	29127	broad.mit.edu	37	12	50384502	50384502	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:50384502C>T	ENST00000434422.1	-	17	2089	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q	RACGAP1_ENST00000547905.1_Silent_p.Q596Q|RACGAP1_ENST00000427314.2_Silent_p.Q596Q|RACGAP1_ENST00000548961.1_Intron|RACGAP1_ENST00000312377.5_Silent_p.Q596Q|RACGAP1_ENST00000551016.1_Silent_p.Q596Q|RACGAP1_ENST00000454520.2_Silent_p.Q596Q			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	596					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						AACGGACTCTCTGTGACAGGG	0.408000													42	39					0	0	0.139131	0	0
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612000													4	145					0	0	0.014758	0	0
GOLGA3	2802	broad.mit.edu	37	12	133389926	133389926	+	Silent	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:133389926G>C	ENST00000204726.3	-	4	1044	c.486C>G	c.(484-486)ctC>ctG	p.L162L	GOLGA3_ENST00000537452.1_Silent_p.L162L|GOLGA3_ENST00000450791.2_Silent_p.L162L|GOLGA3_ENST00000545875.1_Silent_p.L162L|GOLGA3_ENST00000456883.2_Silent_p.L162L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	162					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGTACTGTTTGAGCTGCTCTT	0.577000													4	29					0	0	0.009096	0	0
DNHD1	144132	broad.mit.edu	37	11	6520029	6520029	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:6520029G>A	ENST00000254579.6	+	3	1148	c.584G>A	c.(583-585)cGc>cAc	p.R195H	DNHD1_ENST00000527990.2_Missense_Mutation_p.R195H|DNHD1_ENST00000354685.3_Missense_Mutation_p.R195H	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	195					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GAGCTACAGCGCTGCCTGGGC	0.602000													71	57					0	0	0.139131	0	0
OTOP2	92736	broad.mit.edu	37	17	72926613	72926613	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:72926613C>T	ENST00000331427.4	+	6	975	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	OTOP2_ENST00000580223.1_Silent_p.L295L	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	295						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGCCCGGTTCTGGGCCTGCT	0.622000													8	87					0	0	0.047766	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712976	1712976	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chrX:1712976C>T	ENST00000313871.3	+	2	817	c.621C>T	c.(619-621)ttC>ttT	p.F207F	AKAP17A_ENST00000381261.3_Silent_p.F207F	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	207	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TCCACACCTTCAGTTTCGGGG	0.582000													40	59					0	0	0.098360	0	0
RIPK3	11035	broad.mit.edu	37	14	24806528	24806528	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr14:24806528C>T	ENST00000216274.5	-	8	1257	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E21K	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	347					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TTTAGCCACTCAGAAACCATG	0.488000													29	229					0	0	0.134883	0	0
SDCBP2	27111	broad.mit.edu	37	20	1294025	1294025	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:1294025C>T	ENST00000360779.3	-	5	516	c.343G>A	c.(343-345)Gag>Aag	p.E115K	SDCBP2_ENST00000381808.3_Missense_Mutation_p.E30K|SDCBP2_ENST00000339987.3_Missense_Mutation_p.E115K|SDCBP2_ENST00000381812.1_Missense_Mutation_p.E115K	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	115	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						TTGCCGCGCTCGTCCTTGCAC	0.716000													10	18					0	0	0.069234	0	0
PKHD1	5314	broad.mit.edu	37	6	51897906	51897906	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:51897906G>T	ENST00000371117.3	-	29	3561	c.3286C>A	c.(3286-3288)Ctt>Att	p.L1096I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1096I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1096	IPT/TIG 5.		L -> R (in a colorectal cancer sample; somatic mutation).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTCTGGGAAGAACTGCAGAA	0.353000													26	64					2.41591e-17	2.57545e-17	0.099896	1	0
MIA3	375056	broad.mit.edu	37	1	222801319	222801319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:222801319C>T	ENST00000344922.5	+	4	782	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	MIA3_ENST00000344441.6_Nonsense_Mutation_p.Q253*|MIA3_ENST00000344507.1_Nonsense_Mutation_p.Q253*|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	253					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAATAGTTCTCAGGTCTCAAA	0.368000													43	12					0	0	0.131918	0	0
MATR3	9782	broad.mit.edu	37	5	138658375	138658375	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:138658375G>A	ENST00000394800.2	+	16	2416	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	MATR3_ENST00000394805.3_Missense_Mutation_p.E623K|MATR3_ENST00000503811.1_Missense_Mutation_p.E335K|MATR3_ENST00000504203.1_Missense_Mutation_p.E285K|MATR3_ENST00000502929.1_Missense_Mutation_p.E623K|MATR3_ENST00000361059.2_Missense_Mutation_p.E623K|MATR3_ENST00000510056.1_Missense_Mutation_p.E623K|MATR3_ENST00000502499.1_Missense_Mutation_p.E285K|MATR3_ENST00000509990.1_Missense_Mutation_p.E623K			P43243	MATR3_HUMAN	matrin 3	623						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGTTCAACCGAAGGTAAAGA	0.403000													16	19					0	0	0.132662	0	0
RELL2	285613	broad.mit.edu	37	5	141019570	141019570	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:141019570G>A	ENST00000297164.3	+	5	1787	c.587G>A	c.(586-588)gGt>gAt	p.G196D	RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.G130D|RELL2_ENST00000518856.1_Missense_Mutation_p.G130D|RELL2_ENST00000444782.1_Missense_Mutation_p.G196D|FCHSD1_ENST00000435817.2_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	196			G -> R (in dbSNP:rs17855844).			integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTCTGGTGGGGGACAG	0.672000													35	39					0	0	0.054565	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48551620	48551620	+	Nonsense_Mutation	SNP	G	G	A	rs149418455	byFrequency	TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:48551620G>A	ENST00000599111.1	-	17	1937	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	PLA2G4C_ENST00000599921.1_Nonsense_Mutation_p.R536*|PLA2G4C_ENST00000413144.2_Nonsense_Mutation_p.R536*|PLA2G4C_ENST00000354276.3_3'UTR	NM_001159322.1|NM_003706.2	NP_001152794.1|NP_003697.2	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	536					arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CAGCAACTTCGGGCACTATCC	0.522000													31	23					0	0	0.134883	0	0
SCAP	22937	broad.mit.edu	37	3	47467542	47467542	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:47467542G>A	ENST00000265565.5	-	7	1267	c.855C>T	c.(853-855)ctC>ctT	p.L285L	SCAP_ENST00000441517.2_Silent_p.L30L|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	285	SSD.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAAGGGGGATGAGCTCAGCGA	0.582000													10	23					0	0	0.069234	0	0
MYH4	4622	broad.mit.edu	37	17	10358115	10358115	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:10358115G>A	ENST00000255381.2	-	22	2558	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	816					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTGAATGCAGAAGATGGACT	0.418000													22	84					0	0	0.055883	0	0
PPP6R2	9701	broad.mit.edu	37	22	50845163	50845163	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:50845163G>C	ENST00000359139.3	+	4	667	c.273G>C	c.(271-273)caG>caC	p.Q91H	PPP6R2_ENST00000216061.5_Missense_Mutation_p.Q91H|PPP6R2_ENST00000395744.3_Missense_Mutation_p.Q91H|PPP6R2_ENST00000395741.3_Missense_Mutation_p.Q91H	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	91						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ATGTGCCGCAGATCAGCGACC	0.532000													35	184					0	0	0.054565	0	0
HRC	3270	broad.mit.edu	37	19	49655634	49655634	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:49655634C>T	ENST00000252825.4	-	3	2090	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	HRC_ENST00000595625.1_Intron	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	635	Metal-binding (Potential).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCAGTGCATCGCTGGGGACC	0.612000													24	69					0	0	0.069288	0	0
FAM65A	79567	broad.mit.edu	37	16	67580076	67580076	+	Silent	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:67580076C>G	ENST00000540839.3	+	22	3781	c.3561C>G	c.(3559-3561)ctC>ctG	p.L1187L	FAM65A_ENST00000379312.3_Silent_p.L1172L|FAM65A_ENST00000428437.2_Silent_p.L1182L|FAM65A_ENST00000422602.2_Silent_p.L1188L|FAM65A_ENST00000042381.4_Silent_p.L1168L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1172						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGTGTACCTCTGCCAAACTG	0.622000													6	25					0	0	0.021553	0	0
ROBO1	6091	broad.mit.edu	37	3	78695330	78695330	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:78695330C>T	ENST00000436010.2	-	19	3730	c.2733G>A	c.(2731-2733)caG>caA	p.Q911Q	ROBO1_ENST00000467549.1_Silent_p.Q905Q|ROBO1_ENST00000495273.1_Silent_p.Q905Q|ROBO1_ENST00000464233.1_Silent_p.Q950Q			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	950					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CGCCTCCTCTCTGGTAAGTTA	0.343000													15	55					0	0	0.043863	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723730	103723730	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:103723730G>C	ENST00000453744.2	-	5	699	c.186C>G	c.(184-186)ttC>ttG	p.F62L	UBE2D3_ENST00000349311.8_Missense_Mutation_p.F62L|UBE2D3_ENST00000394803.5_Missense_Mutation_p.F62L|UBE2D3_ENST00000338145.3_Missense_Mutation_p.F62L|UBE2D3_ENST00000505207.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000357194.6_Missense_Mutation_p.F64L|UBE2D3_ENST00000350435.7_Missense_Mutation_p.F56L|UBE2D3_ENST00000507845.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000343106.5_Missense_Mutation_p.F62L|UBE2D3_ENST00000502404.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000394804.2_Missense_Mutation_p.F62L|UBE2D3_ENST00000321805.7_Missense_Mutation_p.F62L|UBE2D3_ENST00000504211.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000394801.4_Missense_Mutation_p.F62L	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	62					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TAGGTGGTTTGAAGGGGTAGT	0.343000													21	59					0	0	0.099896	0	0
EPSTI1	94240	broad.mit.edu	37	13	43462565	43462565	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr13:43462565G>C	ENST00000313640.7	-	13	1118	c.1054C>G	c.(1054-1056)Ctt>Gtt	p.L352V	EPSTI1_ENST00000313624.7_3'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	0										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		ATCACATTAAGAAAAAGCATC	0.403000													47	52					0	0	0.139131	0	0
DTNA	1837	broad.mit.edu	37	18	32400851	32400851	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr18:32400851G>A	ENST00000283365.9	+	10	1324	c.973G>A	c.(973-975)Gag>Aag	p.E325K	DTNA_ENST00000597674.1_Missense_Mutation_p.E7K|DTNA_ENST00000598774.1_Missense_Mutation_p.E325K|DTNA_ENST00000269192.7_Missense_Mutation_p.E7K|DTNA_ENST00000601125.1_Missense_Mutation_p.E7K|DTNA_ENST00000269191.6_Missense_Mutation_p.E325K|DTNA_ENST00000348997.5_Missense_Mutation_p.E325K|DTNA_ENST00000315456.6_Missense_Mutation_p.E325K|DTNA_ENST00000444659.1_Missense_Mutation_p.E325K|DTNA_ENST00000598142.1_Missense_Mutation_p.E325K|DTNA_ENST00000399097.3_Missense_Mutation_p.E7K|DTNA_ENST00000269190.7_Missense_Mutation_p.E325K|DTNA_ENST00000556414.3_Missense_Mutation_p.E7K|DTNA_ENST00000399121.5_Missense_Mutation_p.E325K|DTNA_ENST00000599844.1_Missense_Mutation_p.E7K|DTNA_ENST00000595022.1_Missense_Mutation_p.E325K|DTNA_ENST00000598334.1_Missense_Mutation_p.E325K|DTNA_ENST00000591182.1_Missense_Mutation_p.E7K|DTNA_ENST00000399113.3_Missense_Mutation_p.E325K|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000597599.1_Missense_Mutation_p.E325K|DTNA_ENST00000554864.3_Missense_Mutation_p.E325K	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	325					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGATCAGCCTGAGAAGCCACT	0.498000													18	53					0	0	0.038395	0	0
SCLT1	132320	broad.mit.edu	37	4	129864338	129864338	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:129864338G>A	ENST00000281142.5	-	17	1948	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	482						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TATTTCTTCTGAGGAGCTGAT	0.328000													18	15					0	0	0.038395	0	0
PUS7L	83448	broad.mit.edu	37	12	44142294	44142294	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:44142294G>A	ENST00000416848.2	-	3	1517	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	PUS7L_ENST00000553166.1_Silent_p.I343I|PUS7L_ENST00000551923.1_Silent_p.I343I|PUS7L_ENST00000344862.5_Silent_p.I343I|PUS7L_ENST00000431332.3_Silent_p.I30I	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	343			I -> V (in dbSNP:rs34668377).		pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CTTGATAGGTGATGGCTTTCT	0.338000													52	81					0	0	0.139131	0	0
SORCS3	22986	broad.mit.edu	37	10	106865234	106865234	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:106865234C>T	ENST00000369701.3	+	7	1400	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	391						integral to membrane	neuropeptide receptor activity	p.I391I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATTGACATCAGTTCCCTGG	0.502000													40	26					0	0	0.092188	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432474	140432474	+	Silent	SNP	A	A	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:140432474A>G	ENST00000306549.3	+	1	1496	c.1419A>G	c.(1417-1419)aaA>aaG	p.K473K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		473	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATTGGCAAAGTCCATGCTG	0.398000													16	29					0	0	0.146539	0	0
FAM204A	63877	broad.mit.edu	37	10	120095811	120095811	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:120095811C>T	ENST00000369183.4	-	3	376	c.117G>A	c.(115-117)gaG>gaA	p.E39E	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Silent_p.E39E	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	39										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						TTCTGATGCTCTCATCCTCTT	0.398000													8	64					0	0	0.038147	0	0
IFNK	56832	broad.mit.edu	37	9	27524640	27524640	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr9:27524640C>T	ENST00000276943.2	+	1	329	c.306C>T	c.(304-306)acC>acT	p.T102T	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	102					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GCCAACACACCTTCAAATATT	0.433000													14	103					0	0	0.119110	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549917	46549917	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr13:46549917C>T	ENST00000242848.4	-	12	2317	c.1969G>A	c.(1969-1971)Gat>Aat	p.D657N	ZC3H13_ENST00000282007.3_Missense_Mutation_p.D657N			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	657	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTCTTTCATCACGCTCAAGC	0.448000													10	63					0	0	0.058154	0	0
PXDN	7837	broad.mit.edu	37	2	1652720	1652720	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:1652720G>A	ENST00000252804.4	-	17	2882	c.2832C>T	c.(2830-2832)tcC>tcT	p.S944S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	944					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCGGCTTCCCGGACCGCTGCA	0.726000													5	16					0	0	0.014758	0	0
VPS53	55275	broad.mit.edu	37	17	617916	617916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:617916C>A	ENST00000437048.2	-	1	180	c.34G>T	c.(34-36)Gag>Tag	p.E12*	VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Nonsense_Mutation_p.E12*|VPS53_ENST00000571805.1_Nonsense_Mutation_p.E12*|VPS53_ENST00000291074.5_Nonsense_Mutation_p.E12*|VPS53_ENST00000401468.3_Nonsense_Mutation_p.E12*	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	12					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)		GCTTCCAGCTCCTCCACGAAC	0.701000													21	92					1.55795e-14	1.64531e-14	0.062417	1	0
CCDC110	256309	broad.mit.edu	37	4	186379657	186379657	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:186379657G>C	ENST00000307588.3	-	6	2159	c.2084C>G	c.(2083-2085)tCa>tGa	p.S695*	CCDC110_ENST00000510617.1_Nonsense_Mutation_p.S695*|CCDC110_ENST00000393540.3_Nonsense_Mutation_p.S658*	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	695						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GCCAATTTCTGACAAGCTATT	0.299000													9	17					0	0	0.047766	0	0
GHR	2690	broad.mit.edu	37	5	42718965	42718965	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:42718965G>A	ENST00000230882.4	+	10	1546	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	GHR_ENST00000357703.3_Silent_p.E430E|GHR_ENST00000537449.1_Silent_p.E265E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	452					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCCAAGCAGAGAAAAACAAAC	0.453000													22	35					0	0	0.062417	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205571	100205571	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:100205571C>T	ENST00000223061.5	+	9	1475	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	399	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGTCAGTTATCTGCTGATGGG	0.532000													18	114					0	0	0.033300	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	11					0.004672	0.00473485	0.115264	1	0
MAP3K8	1326	broad.mit.edu	37	10	30740671	30740671	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:30740671G>C	ENST00000263056.1	+	6	1567	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	MAP3K8_ENST00000375321.1_Missense_Mutation_p.E291Q|MAP3K8_ENST00000542547.1_Missense_Mutation_p.E291Q	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	291	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCGAGGAACAGAGGTAATTAT	0.358000													9	52					0	0	0.047766	0	0
BOC	91653	broad.mit.edu	37	3	113004260	113004260	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:113004260C>T	ENST00000495514.1	+	19	3709	c.3005C>T	c.(3004-3006)aCa>aTa	p.T1002I	BOC_ENST00000355385.3_Missense_Mutation_p.T1002I|BOC_ENST00000273395.4_Missense_Mutation_p.T1003I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1002					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TTCTTATACACACTGCCCGAC	0.657000													19	51					0	0	0.055883	0	0
MMP14	4323	broad.mit.edu	37	14	23315081	23315081	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr14:23315081G>A	ENST00000311852.6	+	10	1843	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	MMP14_ENST00000548162.1_Intron	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	528						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GATCATCATTGAGGTGGACGA	0.687000													36	40					0	0	0.069456	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	76					0	0	0.009096	0	0
ARID2	196528	broad.mit.edu	37	12	46205217	46205217	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:46205217G>A	ENST00000334344.6	+	4	473	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	101	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAAAGTACGAGAAAGTTCA	0.358000			"""N, S, F"""		hepatocellular carcinoma								16	27					0	0	0.038395	0	0
PON1	5444	broad.mit.edu	37	7	94947686	94947686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:94947686G>A	ENST00000222381.3	-	2	325	c.94C>T	c.(94-96)Cga>Tga	p.R32*	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	32					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TGTACCTCTCGGAGAGCATTA	0.383000													13	35					0	0	0.119110	0	0
RNF220	55182	broad.mit.edu	37	1	44877950	44877950	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:44877950C>A	ENST00000355387.2	+	2	631	c.181C>A	c.(181-183)Cct>Act	p.P61T	RNF220_ENST00000361799.2_Missense_Mutation_p.P61T|RNF220_ENST00000372247.2_Missense_Mutation_p.P61T			Q5VTB9	RN220_HUMAN	ring finger protein 220	61					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CGTGCATATTCCTTTCACCAA	0.542000													76	206					3.82405e-32	4.10563e-32	0.139131	1	0
KIF3B	9371	broad.mit.edu	37	20	30897980	30897980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:30897980C>T	ENST00000375712.3	+	2	567	c.400C>T	c.(400-402)Cag>Tag	p.Q134*		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	134	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCTCGATCCCAGAATCAACA	0.453000													10	74					0	0	0.058154	0	0
CCDC8	83987	broad.mit.edu	37	19	46915870	46915870	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:46915870C>T	ENST00000307522.3	-	1	971	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	66						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GGGGCTGGGGCGGGTGCgggg	0.657000													5	121					0	0	0.014758	0	0
CCDC39	339829	broad.mit.edu	37	3	180377515	180377515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:180377515G>A	ENST00000273654.4	-	11	1430	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	CCDC39_ENST00000442201.2_Nonsense_Mutation_p.Q187*			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	187					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCTTTTCTGATTACATTCC	0.289000													13	41					0	0	0.146539	0	0
OPRD1	4985	broad.mit.edu	37	1	29189718	29189718	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:29189718G>A	ENST00000234961.2	+	3	1284	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	348					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CTTCAGCCGCGCCCGCGAAGC	0.731000													4	8					0	0	0.009096	0	0
NUP153	9972	broad.mit.edu	37	6	17616866	17616866	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:17616866G>A	ENST00000262077.2	-	21	4234	c.4235C>T	c.(4234-4236)tCa>tTa	p.S1412L	NUP153_ENST00000537253.1_Missense_Mutation_p.S1443L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1412					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GAACACTCCTGATGGACTGTT	0.463000													25	27					0	0	0.099896	0	0
USH2A	7399	broad.mit.edu	37	1	216011376	216011376	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:216011376G>A	ENST00000366943.2	-	47	9714	c.9328C>T	c.(9328-9330)Cca>Tca	p.P3110S	USH2A_ENST00000307340.3_Missense_Mutation_p.P3110S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3110	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATATCACTTGGAGTGTCTTCC	0.368000										HNSCC(13;0.011)			7	109					0	0	0.029380	0	0
EIF3E	3646	broad.mit.edu	37	8	109215676	109215676	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr8:109215676T>G	ENST00000220849.5	-	11	1180	c.1118A>C	c.(1117-1119)aAt>aCt	p.N373T	EIF3E_ENST00000519030.1_Missense_Mutation_p.N280T	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	373	PCI.|Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TCTAATCAAATTTACAATCCA	0.333000													32	116					0	0	0.064281	0	0
CTNNA3	29119	broad.mit.edu	37	10	68040323	68040323	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:68040323A>T	ENST00000433211.2	-	13	1963	c.1789T>A	c.(1789-1791)Tca>Aca	p.S597T	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S597T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACATTCAATGAGCTTTTGCTT	0.333000													34	61					0	0	0.054565	0	0
YBX2	51087	broad.mit.edu	37	17	7193782	7193782	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:7193782G>A	ENST00000007699.5	-	5	595	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	178					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CGGGACTTACGTCGGTTGGGG	0.627000													11	50					0	0	0.069234	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42406712	42406712	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:42406712G>A	ENST00000599846.1	+	18	1820	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q	ARHGEF1_ENST00000347545.4_Silent_p.Q476Q|ARHGEF1_ENST00000378152.4_Silent_p.Q491Q|ARHGEF1_ENST00000354532.3_Silent_p.Q509Q|ARHGEF1_ENST00000337665.4_Silent_p.Q524Q			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	509	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCTGGTTCCAGAAAATCTCCT	0.562000													6	72					0	0	0.038147	0	0
DGKD	8527	broad.mit.edu	37	2	234368457	234368457	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:234368457G>A	ENST00000264057.2	+	23	2761	c.2749G>A	c.(2749-2751)Gac>Aac	p.D917N	DGKD_ENST00000409813.3_Missense_Mutation_p.D873N	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	917					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGTGCAGGTGGACGGAGAGGC	0.602000													28	8					0	0	0.125774	0	0
BPTF	2186	broad.mit.edu	37	17	65905851	65905851	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:65905851C>T	ENST00000321892.4	+	12	3405	c.3344C>T	c.(3343-3345)tCa>tTa	p.S1115L	BPTF_ENST00000424123.3_Missense_Mutation_p.S976L|BPTF_ENST00000335221.5_Missense_Mutation_p.S1115L|BPTF_ENST00000306378.6_Missense_Mutation_p.S989L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1115					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGGATATCTCAAAGATTACT	0.438000													9	31					0	0	0.069234	0	0
KSR2	283455	broad.mit.edu	37	12	117962701	117962701	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:117962701G>A	ENST00000425217.1	-	14	2142	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	KSR2_ENST00000339824.5_Silent_p.F725F|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.F422F	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	725	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCACCCATGAAAAGCACCA	0.577000													11	21					0	0	0.069234	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22839648	22839648	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:22839648C>A	ENST00000376573.4	-	7	960	c.732G>T	c.(730-732)aaG>aaT	p.K244N	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K185N|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.K104N	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	244	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CAATATAAATCTTTTGGCCCT	0.363000											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	125					1.1804e-14	1.24951e-14	0.091800	1	0
EIF3L	51386	broad.mit.edu	37	22	38254712	38254712	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:38254712G>C	ENST00000412331.2	+	5	982	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.E36Q|EIF3L_ENST00000381683.6_Missense_Mutation_p.E134Q	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	134						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTATACAAAGAATTATACTA	0.373000													67	214					0	0	0.139131	0	0
NOP56	10528	broad.mit.edu	37	20	2637798	2637798	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:2637798G>C	ENST00000329276.5	+	11	1869	c.1353G>C	c.(1351-1353)aaG>aaC	p.K451N	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	451	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AGAAGGAAAAGAAACGGCTGG	0.517000													31	48					0	0	0.144211	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167830	161167830	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:161167830G>A	ENST00000367996.5	-	1	1016	c.588C>T	c.(586-588)gtC>gtT	p.V196V	ADAMTS4_ENST00000367995.3_Silent_p.V196V	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGAGCCTTGACGTTGCACA	0.637000													6	56					0	0	0.021553	0	0
RPL11	6135	broad.mit.edu	37	1	24020391	24020391	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:24020391G>A	ENST00000374550.3	+	3	297	c.252G>A	c.(250-252)gaG>gaA	p.E84E	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	84					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AAATCTTGGAGAAGGGTCTAA	0.433000													5	16					0	0	0.014758	0	0
RAD51D	5892	broad.mit.edu	37	17	33430553	33430553	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:33430553G>A	ENST00000345365.6	-	7	842	c.587C>T	c.(586-588)tCt>tTt	p.S196F	RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000460118.2_Missense_Mutation_p.S77F|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.S37F|RAD51D_ENST00000590016.1_Missense_Mutation_p.S216F|RAD51D_ENST00000394589.4_Missense_Mutation_p.S196F|RAD51D_ENST00000360276.3_Missense_Mutation_p.S151F|RAD51D_ENST00000335858.7_Missense_Mutation_p.S84F	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	196					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGTTCCTGAAGAACCAGTCAC	0.517000								Direct reversal of damage					20	13					0	0	0.055883	0	0
TLX3	30012	broad.mit.edu	37	5	170738557	170738557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:170738557G>A	ENST00000296921.5	+	3	912	c.830G>A	c.(829-831)tGg>tAg	p.W277*		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	277						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGCAGCCCTGGGAGGAGGAT	0.642000			T	BCL11B	T-ALL								3	9					0	0	0.115264	0	0
PHF12	57649	broad.mit.edu	37	17	27251308	27251308	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:27251308T>C	ENST00000577226.1	-	4	680	c.334A>G	c.(334-336)Aaa>Gaa	p.K112E	PHF12_ENST00000268756.3_Missense_Mutation_p.K112E|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Missense_Mutation_p.K112E			Q96QT6	PHF12_HUMAN	PHD finger protein 12	112	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGCTCCTTTTTCTGCTCTCGT	0.483000													9	74					0	0	0.080935	0	0
MYH3	4621	broad.mit.edu	37	17	10553715	10553715	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:10553715C>T	ENST00000583535.1	-	6	596	c.509G>A	c.(508-510)cGt>cAt	p.R170H	MYH3_ENST00000226209.7_Missense_Mutation_p.R170H	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	170	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGGTTTTCACGATCTGCCAG	0.408000													18	18					0	0	0.038395	0	0
EPHA3	2042	broad.mit.edu	37	3	89259300	89259300	+	Silent	SNP	T	T	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:89259300T>C	ENST00000336596.2	+	3	669	c.444T>C	c.(442-444)gcT>gcC	p.A148A	EPHA3_ENST00000494014.1_Silent_p.A148A|EPHA3_ENST00000452448.2_Silent_p.A148A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	148						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCATTGCAGCTGATGAAAGTT	0.418000										TSP Lung(6;0.00050)			10	96					0	0	0.058154	0	0
CCDC80	151887	broad.mit.edu	37	3	112357178	112357178	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:112357178C>T	ENST00000206423.3	-	2	2528	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q	CCDC80_ENST00000439685.2_Silent_p.Q525Q	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	525	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CATTCCCCACCTGCAGCTCGT	0.448000													20	37					0	0	0.043863	0	0
GABRA1	2554	broad.mit.edu	37	5	161322791	161322791	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:161322791T>G	ENST00000428797.2	+	10	1331	c.976T>G	c.(976-978)Tca>Gca	p.S326A	GABRA1_ENST00000444819.1_Missense_Mutation_p.S326A|GABRA1_ENST00000437025.2_Missense_Mutation_p.S326A|GABRA1_ENST00000420560.1_Missense_Mutation_p.S326A|GABRA1_ENST00000393943.4_Missense_Mutation_p.S326A|GABRA1_ENST00000023897.6_Missense_Mutation_p.S326A	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	326					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTTTGTGTTCTCAGCTCTGAT	0.433000													5	92					0	0	0.014758	0	0
BRWD3	254065	broad.mit.edu	37	X	79932821	79932821	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chrX:79932821C>G	ENST00000373275.4	-	41	4912	c.4696G>C	c.(4696-4698)Gag>Cag	p.E1566Q	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1566										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCCGGGGCTCTCTGCCATCA	0.353000													18	25					0	0	0.049695	0	0
COL13A1	1305	broad.mit.edu	37	10	71677051	71677051	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:71677051C>T	ENST00000356340.3	+	17	1494	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	COL13A1_ENST00000398966.3_Missense_Mutation_p.R298W|COL13A1_ENST00000520267.1_Missense_Mutation_p.R263W|COL13A1_ENST00000357811.3_Missense_Mutation_p.R298W|COL13A1_ENST00000398968.3_Missense_Mutation_p.R301W|COL13A1_ENST00000398973.3_Missense_Mutation_p.R320W|COL13A1_ENST00000398971.3_Missense_Mutation_p.R320W|COL13A1_ENST00000517713.1_Missense_Mutation_p.R298W|COL13A1_ENST00000398978.3_Missense_Mutation_p.R320W|COL13A1_ENST00000398972.3_Missense_Mutation_p.R320W|COL13A1_ENST00000398964.3_Missense_Mutation_p.R291W|COL13A1_ENST00000520133.1_Missense_Mutation_p.R269W|COL13A1_ENST00000522165.1_Missense_Mutation_p.R301W|COL13A1_ENST00000398974.3_Missense_Mutation_p.R308W|COL13A1_ENST00000354547.3_Missense_Mutation_p.R298W|COL13A1_ENST00000398969.3_Missense_Mutation_p.R263W			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	320	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCAGGGAGAACGGGGCATGCC	0.622000													6	20					0	0	0.029380	0	0
DPH5	51611	broad.mit.edu	37	1	101456177	101456177	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:101456177C>T	ENST00000593496.1	+	1	417	c.171C>T	c.(169-171)tcC>tcT	p.S57S	DPH5_ENST00000488176.1_Silent_p.E215E|DPH5_ENST00000342173.7_Silent_p.E214E|DPH5_ENST00000370109.3_Silent_p.E215E|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000427040.2_5'UTR																							AAAGTGTCTCCTCGGTAACTG	0.423000													19	18					0	0	0.038395	0	0
DDX19B	11269	broad.mit.edu	37	16	70358513	70358513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:70358513C>T	ENST00000288071.6	+	6	660	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	DDX19B_ENST00000355992.3_Nonsense_Mutation_p.Q108*|DDX19B_ENST00000393657.2_Nonsense_Mutation_p.Q30*|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Nonsense_Mutation_p.Q30*|DDX19B_ENST00000563392.1_Nonsense_Mutation_p.Q30*|DDX19B_ENST00000563206.1_Nonsense_Mutation_p.Q144*|DDX19B_ENST00000451014.3_Nonsense_Mutation_p.Q113*|RP11-529K1.3_ENST00000567706.1_Nonsense_Mutation_p.Q139*	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	139	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGCCCAATCTCAGTCTGGTAC	0.393000													6	11					0	0	0.021553	0	0
TGM2	7052	broad.mit.edu	37	20	36775172	36775172	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:36775172C>G	ENST00000361475.2	-	6	979	c.806G>C	c.(805-807)tGc>tCc	p.C269S	TGM2_ENST00000536724.1_Missense_Mutation_p.C209S|TGM2_ENST00000536701.1_Missense_Mutation_p.C188S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	269					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GACGCGCTGGCAGCCGTGGTT	0.672000													14	34					0	0	0.105934	0	0
HOXA11	3207	broad.mit.edu	37	7	27224386	27224386	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:27224386G>C	ENST00000006015.3	-	1	449	c.378C>G	c.(376-378)ttC>ttG	p.F126L	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	126					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CGGTGCTATAGAAATTGGACG	0.662000			T	NUP98	CML								25	71					0	0	0.116897	0	0
ATAT1	79969	broad.mit.edu	37	6	30595655	30595655	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:30595655C>T	ENST00000376483.4	+	4	298	c.288C>T	c.(286-288)ttC>ttT	p.F96F	ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000330083.5_Silent_p.F84F|ATAT1_ENST00000319027.5_Silent_p.F96F|ATAT1_ENST00000329992.8_Silent_p.F96F|ATAT1_ENST00000318999.7_Silent_p.F96F|ATAT1_ENST00000376478.2_Silent_p.F96F|ATAT1_ENST00000376485.4_Silent_p.F96F			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	96							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTATTGGTTTCATCAAAGTTG	0.438000													98	28					0	0	0.139131	0	0
WDR52	55779	broad.mit.edu	37	3	113098205	113098205	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:113098205G>C	ENST00000393845.2	-	17	2312	c.2246C>G	c.(2245-2247)tCt>tGt	p.S749C	WDR52_ENST00000295868.2_Missense_Mutation_p.S749C	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	749								p.S749Y(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GAGGATGGGAGAGGGGGTTGA	0.403000													32	28					0	0	0.045705	0	0
ARID1B	57492	broad.mit.edu	37	6	157522064	157522064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:157522064C>T	ENST00000346085.5	+	18	4337	c.4336C>T	c.(4336-4338)Cag>Tag	p.Q1446*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1428*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1486*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1433*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1433					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AATCCCGCCTCAGATGATGGG	0.637000													32	5					0	0	0.134883	0	0
CHD6	84181	broad.mit.edu	37	20	40040854	40040854	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:40040854C>G	ENST00000373233.3	-	36	7358	c.7181G>C	c.(7180-7182)gGa>gCa	p.G2394A	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2394					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			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)				ATCTAATTTTCCAGGTTCTTT	0.493000													23	136					0	0	0.076483	0	0
TRIM36	55521	broad.mit.edu	37	5	114469713	114469713	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:114469713C>G	ENST00000513154.1	-	8	1668	c.1342G>C	c.(1342-1344)Gaa>Caa	p.E448Q	TRIM36_ENST00000514154.1_Missense_Mutation_p.E305Q|TRIM36_ENST00000282369.3_Missense_Mutation_p.E460Q			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	460	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATGACATTTCATCATCTCTA	0.353000													8	51					0	0	0.047766	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26237009	26237009	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:26237009C>G	ENST00000354667.4	-	4	394	c.226G>C	c.(226-228)Gat>Cat	p.D76H	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.D64H	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	76	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATGGCAGCATCAACCTCAGCC	0.433000			T	ETV1	prostate								46	102					0	0	0.124865	0	0
COX7B2	170712	broad.mit.edu	37	4	46737190	46737190	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:46737190C>T	ENST00000396533.1	-	4	270	c.20G>A	c.(19-21)aGa>aAa	p.R7K	COX7B2_ENST00000543208.1_Missense_Mutation_p.R6K|COX7B2_ENST00000355591.3_Missense_Mutation_p.R7K|COX7B2_ENST00000302930.5_Missense_Mutation_p.R7K			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	7						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						TAGTGCATTTCTGGCCAAGGG	0.398000													30	28					0	0	0.050027	0	0
TOP1MT	116447	broad.mit.edu	37	8	144392357	144392357	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr8:144392357C>A	ENST00000523676.1	-	14	1695	c.1290G>T	c.(1288-1290)gaG>gaT	p.E430D	TOP1MT_ENST00000519148.1_Missense_Mutation_p.E430D|TOP1MT_ENST00000329245.4_Missense_Mutation_p.E528D|TOP1MT_ENST00000521193.1_Missense_Mutation_p.E430D			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	528					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCTGCAGCTTCTCCAGGAGCC	0.642000													20	1					2.94398e-08	3.03116e-08	0.043863	1	0
NID1	4811	broad.mit.edu	37	1	236180536	236180536	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:236180536C>T	ENST00000264187.6	-	10	2248	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	722	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTGTGTGGCTCCCACACACTG	0.433000													72	15					0	0	0.139131	0	0
LIN7A	8825	broad.mit.edu	37	12	81242056	81242056	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:81242056C>T	ENST00000552864.1	-	3	449	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	83					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GCACGGAATTCGGGACAGCCA	0.358000													23	14					0	0	0.099896	0	0
BRINP1	1620	broad.mit.edu	37	9	122011275	122011275	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr9:122011275C>A	ENST00000265922.3	-	3	833	c.372G>T	c.(370-372)aaG>aaT	p.K124N	BRINP1_ENST00000373964.2_Missense_Mutation_p.K124N	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	124																	GGGTGCCGTACTTTTTGATGA	0.562000													5	28					0.014758	0.0148566	0.014758	1	0
HFM1	164045	broad.mit.edu	37	1	91859768	91859768	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:91859768G>C	ENST00000370425.3	-	4	474	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	126							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTATATTTCTGAGAAGCATAT	0.358000													28	28					0	0	0.099896	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433304	140433304	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:140433304C>G	ENST00000306549.3	+	1	2326	c.2249C>G	c.(2248-2250)tCt>tGt	p.S750C		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		750					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATCCTTATCTCGGCCTTGT	0.403000													33	40					0	0	0.050027	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20601216	20601216	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:20601216C>T	ENST00000202677.7	-	11	1299	c.1292G>A	c.(1291-1293)aGa>aAa	p.R431K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AATCCACTTTCTGTACACTTG	0.398000													24	24					0	0	0.076483	0	0
KCNS3	3790	broad.mit.edu	37	2	18113448	18113448	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:18113448C>G	ENST00000403915.1	+	3	1624	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.I391M	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	391					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCACATGCATCATCTGTGGCA	0.537000													30	31					0	0	0.134883	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													3	51					0	0	0.115264	0	0
NCOA7	135112	broad.mit.edu	37	6	126243869	126243869	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:126243869G>C	ENST00000368357.3	+	14	2764	c.2412G>C	c.(2410-2412)tgG>tgC	p.W804C	NCOA7_ENST00000392477.2_Missense_Mutation_p.W804C|NCOA7_ENST00000229634.9_Missense_Mutation_p.W689C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	804					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.W804*(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GGTATCCATGGAGACTGGCCT	0.502000													42	11					0	0	0.098360	0	0
POLR3A	11128	broad.mit.edu	37	10	79785921	79785921	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:79785921C>T	ENST00000372371.3	-	2	248	c.111G>A	c.(109-111)gtG>gtA	p.V37V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	37					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGTTCTTACTCACAACTTGGA	0.512000													26	18					0	0	0.083992	0	0
CCDC47	57003	broad.mit.edu	37	17	61841547	61841547	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:61841547G>C	ENST00000225726.5	-	4	758	c.376C>G	c.(376-378)Cct>Gct	p.P126A	CCDC47_ENST00000582252.1_Missense_Mutation_p.P126A|CCDC47_ENST00000403162.3_Missense_Mutation_p.P126A	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	126						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGGTGTGCAGGAACCTAAAAA	0.378000													18	70					0	0	0.049695	0	0
LCN9	392399	broad.mit.edu	37	9	138557738	138557738	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr9:138557738G>A	ENST00000277526.3	+	6	507	c.507G>A	c.(505-507)ccG>ccA	p.P169P	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	169						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		ACAGGAGCCCGCCCAGGCCTC	0.687000													4	10					0	0	0.014758	0	0
ITGAL	3683	broad.mit.edu	37	16	30515570	30515570	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:30515570G>A	ENST00000356798.6	+	18	2400	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	ITGAL_ENST00000358164.5_Silent_p.P657P|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	740					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AAGGGACACCGAGGGACCAAA	0.517000													10	47					0	0	0.069234	0	0
ITGA4	3676	broad.mit.edu	37	2	182386952	182386952	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:182386952A>G	ENST00000397033.2	+	18	2387	c.1957A>G	c.(1957-1959)Agt>Ggt	p.S653G		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	653					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGCTGTTGGGAGTATGAAGAC	0.333000													24	43					0	0	0.076483	0	0
MUC16	94025	broad.mit.edu	37	19	9019599	9019599	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:9019599C>T	ENST00000397910.4	-	22	37750		c.e22+1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						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						TGAATACTCACTGCTGCTGGT	0.517000													19	59					0	0	0.049695	0	0
KIF26B	55083	broad.mit.edu	37	1	245862267	245862267	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:245862267G>A	ENST00000366518.4	+	11	5067	c.4963G>A	c.(4963-4965)Gag>Aag	p.E1655K	KIF26B_ENST00000407071.2_Missense_Mutation_p.E2036K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2036	Ser-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGCGAAGTACGAGTGGCTGAT	0.567000													52	14					0	0	0.139131	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													9	62					0	0	0.058154	0	0
TARS	6897	broad.mit.edu	37	5	33463913	33463913	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:33463913G>A	ENST00000265112.3	+	17	2202	c.1891G>A	c.(1891-1893)Gat>Aat	p.D631N	TARS_ENST00000414361.2_Missense_Mutation_p.D510N|TARS_ENST00000541634.1_Missense_Mutation_p.D527N|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.D631N|TARS_ENST00000455217.2_Missense_Mutation_p.D664N	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	631					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ACCAACCTGTGATGAATATGC	0.403000													3	8					0	0	0.014758	0	0
CATSPERG	57828	broad.mit.edu	37	19	38849178	38849178	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:38849178C>G	ENST00000409235.3	+	13	1588	c.1473C>G	c.(1471-1473)atC>atG	p.I491M	CATSPERG_ENST00000410018.1_Missense_Mutation_p.I451M|CATSPERG_ENST00000215069.4_Missense_Mutation_p.I484M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	491					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGATCTTCATCTGGGGCAACT	0.562000													17	38					0	0	0.033300	0	0
IGLV1-44	28823	broad.mit.edu	37	22	22735567	22735567	+	RNA	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:22735567C>G	ENST00000390297.2	+	0	318																											AACTCCTCATCTATAGTAATA	0.557000													102	88					0	0	0.139131	0	0
ATP2C2	9914	broad.mit.edu	37	16	84442088	84442088	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:84442088C>T	ENST00000416219.2	+	4	494	c.405C>T	c.(403-405)gtC>gtT	p.V135V	ATP2C2_ENST00000262429.4_Silent_p.V135V|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	135					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGGACGCCGTCAGCATCGCCA	0.552000													11	19					0	0	0.069234	0	0
TEX2	55852	broad.mit.edu	37	17	62265632	62265632	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:62265632G>A	ENST00000258991.3	-	5	2425	c.2341C>T	c.(2341-2343)Ctc>Ttc	p.L781F	TEX2_ENST00000583097.1_Missense_Mutation_p.L774F|TEX2_ENST00000584379.1_Missense_Mutation_p.L774F			Q8IWB9	TEX2_HUMAN	testis expressed 2	774					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTGTAGTCGAGAAGCATCTTC	0.627000													9	65					0	0	0.080935	0	0
TMTC2	160335	broad.mit.edu	37	12	83250798	83250798	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:83250798C>G	ENST00000549919.1	+	3	1880	c.75C>G	c.(73-75)atC>atG	p.I25M	TMTC2_ENST00000321196.3_Missense_Mutation_p.I31M|TMTC2_ENST00000548305.1_Missense_Mutation_p.I31M			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	31						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCCGTGCTATCAAGACTAATC	0.383000													48	54					0	0	0.139131	0	0
DENND5A	23258	broad.mit.edu	37	11	9167252	9167252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:9167252G>A	ENST00000328194.3	-	17	3288	c.2968C>T	c.(2968-2970)Cag>Tag	p.Q990*	DENND5A_ENST00000527700.1_Nonsense_Mutation_p.Q333*|DENND5A_ENST00000530044.1_Nonsense_Mutation_p.Q990*	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	990	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGGGAATCTGCATGATCTGT	0.507000													58	108					0	0	0.139131	0	0
SYNJ1	8867	broad.mit.edu	37	21	34056376	34056376	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr21:34056376T>C	ENST00000382499.2	-	10	1288	c.1289A>G	c.(1288-1290)aAt>aGt	p.N430S	SYNJ1_ENST00000382491.3_Missense_Mutation_p.N391S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N430S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.N391S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.N391S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	391	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTGCACACTATTTGTTCTATC	0.338000													14	36					0	0	0.119110	0	0
KLF6	1316	broad.mit.edu	37	10	3824407	3824407	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:3824407C>G	ENST00000497571.1	-	2	363		c.e2-1		KLF6_ENST00000542957.1_Splice_Site|KLF6_ENST00000469435.1_Splice_Site	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6						B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTAGGCAGGTCTGTGCAAAAT	0.443000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	16					0	0	0.083992	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	11					0	0	0.115264	0	0
OFCC1	266553	broad.mit.edu	37	6	9900667	9900667	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:9900667C>G	ENST00000316020.6	-	6	602	c.603G>C	c.(601-603)aaG>aaC	p.K201N	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTTCGTGACTCTTATTGGAAC	0.453000													24	29					0	0	0.069288	0	0
CUX1	1523	broad.mit.edu	37	7	101840330	101840330	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:101840330G>A	ENST00000360264.3	+	15	1692	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	CUX1_ENST00000292535.7_Missense_Mutation_p.E547K|CUX1_ENST00000556210.1_Missense_Mutation_p.E445K|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.E445K|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.E547K|CUX1_ENST00000550008.2_Missense_Mutation_p.E547K	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	547					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGCGTCTCCGAGGGCGAGGA	0.517000													13	111					0	0	0.093190	0	0
LPHN3	23284	broad.mit.edu	37	4	62863981	62863981	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:62863981C>T	ENST00000512091.2	+	20	3936	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	LPHN3_ENST00000509896.1_Silent_p.I1131I|LPHN3_ENST00000508946.1_Silent_p.I1063I|LPHN3_ENST00000506746.1_Silent_p.I1131I|LPHN3_ENST00000511324.1_Silent_p.I1131I|LPHN3_ENST00000507625.1_Silent_p.I1131I|LPHN3_ENST00000508693.1_Silent_p.I1131I|LPHN3_ENST00000507164.1_Silent_p.I1131I|LPHN3_ENST00000514996.1_Silent_p.I1063I|LPHN3_ENST00000545650.1_Silent_p.I1063I|LPHN3_ENST00000506700.1_Silent_p.I1063I|LPHN3_ENST00000514157.1_Silent_p.I1063I|LPHN3_ENST00000514591.1_Silent_p.I1063I|LPHN3_ENST00000504896.1_Silent_p.I1063I|LPHN3_ENST00000506720.1_Silent_p.I1131I			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTGATAACATCAAGTAAGTGA	0.294000													4	22					0	0	0.014758	0	0
GRM1	2911	broad.mit.edu	37	6	146351188	146351188	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:146351188G>C	ENST00000392299.2	+	2	1005	c.535G>C	c.(535-537)Gac>Cac	p.D179H	GRM1_ENST00000355289.4_Missense_Mutation_p.D179H|GRM1_ENST00000282753.1_Missense_Mutation_p.D179H|GRM1_ENST00000361719.2_Missense_Mutation_p.D179H|GRM1_ENST00000492807.2_Missense_Mutation_p.D179H|GRM1_ENST00000507907.1_Missense_Mutation_p.D179H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	179					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAGCTCTTCGACATCCCCCA	0.547000													27	108					0	0	0.099896	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796790	93796790	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:93796790G>A	ENST00000315765.9	+	3	540	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	178	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACTCCAGCCGATGCCAACTG	0.527000													21	65					0	0	0.055883	0	0
PLEC	5339	broad.mit.edu	37	8	145003400	145003400	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr8:145003400G>A	ENST00000322810.4	-	25	3711	c.3542C>T	c.(3541-3543)tCt>tTt	p.S1181F	PLEC_ENST00000357649.2_Missense_Mutation_p.S1048F|PLEC_ENST00000527096.1_Missense_Mutation_p.S1067F|PLEC_ENST00000354589.3_Missense_Mutation_p.S1044F|PLEC_ENST00000345136.3_Missense_Mutation_p.S1044F|PLEC_ENST00000356346.3_Missense_Mutation_p.S1030F|PLEC_ENST00000398774.2_Missense_Mutation_p.S1012F|PLEC_ENST00000436759.2_Missense_Mutation_p.S1071F|PLEC_ENST00000354958.2_Missense_Mutation_p.S1022F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1181	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCCTCGGCAGAGAGCCGGGC	0.682000													8	16					0	0	0.047766	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113677340	113677340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:113677340C>T	ENST00000330212.3	+	5	1470	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	ZDHHC23_ENST00000488129.1_3'UTR|ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.Q385*	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	391						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GGCCCTCCGACAGAAGACTGG	0.592000													7	37					0	0	0.029380	0	0
TNPO3	23534	broad.mit.edu	37	7	128655128	128655128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:128655128C>A	ENST00000393245.1	-	4	830	c.457G>T	c.(457-459)Gaa>Taa	p.E153*	TNPO3_ENST00000265388.5_Nonsense_Mutation_p.E153*|TNPO3_ENST00000471166.1_Nonsense_Mutation_p.E153*|TNPO3_ENST00000482320.1_Nonsense_Mutation_p.E87*|TNPO3_ENST00000471234.1_Nonsense_Mutation_p.E153*	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	153					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CTATGTACTTCTTCAGGTAAC	0.383000													20	42					1.87028e-06	1.91693e-06	0.062417	1	0
OBSCN	84033	broad.mit.edu	37	1	228547813	228547813	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:228547813G>T	ENST00000284548.11	+	81	19294	c.19220G>T	c.(19219-19221)aGt>aTt	p.S6407I	OBSCN_ENST00000366709.4_Missense_Mutation_p.S3526I|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCAGAGGCAGTGTGGACTGG	0.652000													19	2					6.49762e-13	6.83006e-13	0.038395	1	0
ATP5G3	518	broad.mit.edu	37	2	176043904	176043904	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:176043904G>A	ENST00000284727.4	-	4	3219	c.195C>T	c.(193-195)atC>atT	p.I65I	ATP5G3_ENST00000392541.3_Silent_p.I65I|ATP5G3_ENST00000409194.1_Silent_p.I65I	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	65					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			TGTCTCTGCTGATTGCACTGG	0.473000													16	18					0	0	0.132662	0	0
MPL	4352	broad.mit.edu	37	1	43804268	43804268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:43804268C>T	ENST00000372470.3	+	3	310	c.268C>T	c.(268-270)Cga>Tga	p.R90*	MPL_ENST00000413998.2_Nonsense_Mutation_p.R90*	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	90					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTTGGAACCCGATACGTGTG	0.577000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						20	43					0	0	0.049695	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453396	20453396	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:20453396G>C	ENST00000377252.4	+	7	1624		c.e7-1		PLXDC2_ENST00000377242.3_Splice_Site|PLXDC2_ENST00000377238.2_Splice_Site	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTTTTTTCCAGATTCCTGTCT	0.418000													13	39					0	0	0.105934	0	0
MSLNL	401827	broad.mit.edu	37	16	822904	822904	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:822904C>G	ENST00000293892.3	-	11	2280	c.2281G>C	c.(2281-2283)Gag>Cag	p.E761Q	MSLNL_ENST00000442466.1_Missense_Mutation_p.E410Q			Q96KJ4	MSLNL_HUMAN	mesothelin-like	410					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GTCTGGTTCTCCAGGGCCACG	0.697000													9	15					0	0	0.047766	0	0
CHD2	1106	broad.mit.edu	37	15	93524072	93524072	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr15:93524072G>A	ENST00000394196.4	+	23	3972	c.2904G>A	c.(2902-2904)ctG>ctA	p.L968L	CHD2_ENST00000557381.1_Silent_p.L968L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	968	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGAGCTGACAGCTATTT	0.353000													5	39					0	0	0.014758	0	0
GRIK2	2898	broad.mit.edu	37	6	102069943	102069943	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:102069943G>A	ENST00000369138.1	+	2	725	c.235G>A	c.(235-237)Gat>Aat	p.D79N	GRIK2_ENST00000369134.4_Missense_Mutation_p.D30N|GRIK2_ENST00000421544.1_Missense_Mutation_p.D79N|GRIK2_ENST00000318991.6_Missense_Mutation_p.D79N|GRIK2_ENST00000413795.1_Missense_Mutation_p.D79N|GRIK2_ENST00000369137.3_Missense_Mutation_p.D79N|GRIK2_ENST00000358361.3_Missense_Mutation_p.D79N	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	79					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCTTACCTATGATACCCAGAA	0.368000													61	11					0	0	0.139131	0	0
INTU	27152	broad.mit.edu	37	4	128554251	128554251	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:128554251C>T	ENST00000335251.6	+	1	165	c.62C>T	c.(61-63)tCt>tTt	p.S21F	INTU_ENST00000296461.5_Missense_Mutation_p.S21F	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GGAGACCCCTCTTCACAAGAA	0.488000													15	33					0	0	0.119110	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													4	52					0	0	0.014758	0	0
INO80	54617	broad.mit.edu	37	15	41279334	41279334	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr15:41279334C>T	ENST00000361937.3	-	31	4211	c.3787G>A	c.(3787-3789)Gag>Aag	p.E1263K	INO80_ENST00000561244.1_5'UTR|INO80_ENST00000401393.3_Missense_Mutation_p.E1263K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1263	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTAACCACCTCTTTGGGTTTC	0.448000													11	17					0	0	0.093190	0	0
SYNE2	23224	broad.mit.edu	37	14	64457780	64457780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr14:64457780C>T	ENST00000358025.3	+	21	2823	c.2593C>T	c.(2593-2595)Cag>Tag	p.Q865*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q865*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q865*|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	865					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATGAGGGCTCAGCAGTTACT	0.433000													12	21					0	0	0.105934	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22839695	22839695	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:22839695C>G	ENST00000376573.4	-	7	913	c.685G>C	c.(685-687)Gaa>Caa	p.E229Q	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.E170Q|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.E89Q	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	229	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GTTGGCAGTTCTTTGGCCTAA	0.373000											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	91					0	0	0.076483	0	0
KIF3B	9371	broad.mit.edu	37	20	30898654	30898654	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:30898654C>A	ENST00000375712.3	+	2	1241	c.1074C>A	c.(1072-1074)ttC>ttA	p.F358L	KIF3B_ENST00000418717.2_Missense_Mutation_p.F46L	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	358					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTCGAGAATTCCAGGAAGAGA	0.542000													13	56					0.00010058	0.000102392	0.093190	1	0
RGL3	57139	broad.mit.edu	37	19	11510901	11510901	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:11510901G>A	ENST00000380456.3	-	14	1620	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	RGL3_ENST00000393423.3_Silent_p.I519I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	519					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TGGTGAGGCTGATCCGCCGTC	0.632000													24	69					0	0	0.083992	0	0
UAP1	6675	broad.mit.edu	37	1	162551235	162551235	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:162551235G>C	ENST00000271469.3	+	5	1122	c.820G>C	c.(820-822)Gac>Cac	p.D274H	UAP1_ENST00000367924.1_Missense_Mutation_p.D274H|UAP1_ENST00000367925.1_Missense_Mutation_p.D274H|UAP1_ENST00000367926.4_Missense_Mutation_p.D274H			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	274					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAAAGGAGCAGACTGTGGAGC	0.418000													30	82					0	0	0.144211	0	0
RASSF2	9770	broad.mit.edu	37	20	4776583	4776583	+	Silent	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:4776583G>C	ENST00000379400.3	-	5	360	c.165C>G	c.(163-165)ctC>ctG	p.L55L	RASSF2_ENST00000379376.2_Silent_p.L55L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	55					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AGATGTTCAGGAGCCCCTCCA	0.582000													34	46					0	0	0.064281	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													19	8					0	0	0.055883	0	0
IGLV1-47	28822	broad.mit.edu	37	22	22712461	22712461	+	RNA	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:22712461C>G	ENST00000390294.2	+	0	260																											AACTCCTCATCTATAGTAATA	0.562000													11	218					0	0	0.091800	0	0
ZNF133	7692	broad.mit.edu	37	20	18296434	18296434	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:18296434C>T	ENST00000377671.3	+	7	1495	c.936C>T	c.(934-936)ctC>ctT	p.L312L	ZNF133_ENST00000402618.2_Silent_p.L250L|ZNF133_ENST00000401790.1_Silent_p.L313L|ZNF133_ENST00000316358.4_Silent_p.L313L|ZNF133_ENST00000535822.1_Silent_p.L218L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Silent_p.L218L|ZNF133_ENST00000396026.3_Silent_p.L316L	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	313						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGTCAAACCTCATCATACACC	0.532000													14	73					0	0	0.132662	0	0
OAS3	4940	broad.mit.edu	37	12	113385859	113385859	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:113385859C>T	ENST00000228928.7	+	5	1163	c.984C>T	c.(982-984)tgC>tgT	p.C328C	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	328	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ACCACCCATGCTTTCTGAGGG	0.607000													7	22					0	0	0.047766	0	0
ATP2A3	489	broad.mit.edu	37	17	3850883	3850883	+	Silent	SNP	G	G	A	rs41283387	byFrequency	TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:3850883G>A	ENST00000309890.7	-	8	1047	c.897C>T	c.(895-897)gcC>gcT	p.A299A	ATP2A3_ENST00000359983.3_Silent_p.A299A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.A299A|ATP2A3_ENST00000397035.3_Silent_p.A299A|ATP2A3_ENST00000397043.3_Silent_p.A299A|ATP2A3_ENST00000352011.3_Silent_p.A299A	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	299					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGGCCACGGCGATCTTGA	0.677000													4	52					0	0	0.009096	0	0
SPG11	80208	broad.mit.edu	37	15	44943789	44943789	+	Silent	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr15:44943789G>C	ENST00000261866.7	-	6	1372	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L	SPG11_ENST00000535302.2_Silent_p.L452L|SPG11_ENST00000559193.1_Silent_p.L452L|SPG11_ENST00000558319.1_Silent_p.L452L|SPG11_ENST00000427534.2_Silent_p.L452L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	452					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCAAATCCCAGAGGGTAATGG	0.473000													32	42					0	0	0.134883	0	0
ZNF790	388536	broad.mit.edu	37	19	37309748	37309748	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:37309748G>A	ENST00000356725.4	-	5	1618	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTCCAGTATGAATTTTCTGG	0.403000													71	51					0	0	0.139131	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515769	47515769	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:47515769C>G	ENST00000371901.3	+	12	1703	c.1453C>G	c.(1453-1455)Ctt>Gtt	p.L485V	CYP4X1_ENST00000538609.1_Missense_Mutation_p.L484V	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	485						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CACCAGGCCTCTTACTTTCCC	0.453000													36	82					0	0	0.054565	0	0
ANGPT4	51378	broad.mit.edu	37	20	854978	854978	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:854978C>G	ENST00000381922.3	-	8	1402	c.1300G>C	c.(1300-1302)Gac>Cac	p.D434H	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	434	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TTGTCTGAGTCAAGGGTGCTA	0.622000													24	78					0	0	0.076483	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551835	100551835	+	RNA	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:100551835C>T	ENST00000397112.4	-	0	1620					NR_036632.1															large_intestine(1)|lung(3)	4						GCACCTCCTCCTCCTCCTCAC	0.637000													6	19					0	0	0.029380	0	0
CLASP1	23332	broad.mit.edu	37	2	122216525	122216525	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:122216525T>G	ENST00000263710.4	-	13	1594	c.1205A>C	c.(1204-1206)aAg>aCg	p.K402T	CLASP1_ENST00000397587.3_Missense_Mutation_p.K402T|CLASP1_ENST00000455322.2_Missense_Mutation_p.K402T|CLASP1_ENST00000541859.1_Missense_Mutation_p.K171T|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000545861.1_Missense_Mutation_p.K170T|CLASP1_ENST00000541377.1_Missense_Mutation_p.K402T|CLASP1_ENST00000409078.3_Missense_Mutation_p.K402T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	402					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ATGGTCAAACTTATTCCCCAG	0.368000													46	58					0	0	0.139131	0	0
CYYR1	116159	broad.mit.edu	37	21	27840903	27840903	+	Silent	SNP	A	A	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr21:27840903A>G	ENST00000299340.4	-	4	725	c.382T>C	c.(382-384)Ttg>Ctg	p.L128L	CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	128						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGAGGAGGCAAGTCTGCACAG	0.512000													15	46					0	0	0.119110	0	0
C3orf62	375341	broad.mit.edu	37	3	49314171	49314171	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:49314171C>T	ENST00000343010.3	-	1	1171	c.135G>A	c.(133-135)caG>caA	p.Q45Q		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	45										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTCCAGCCTCTGCTGGCCTG	0.557000													20	25					0	0	0.043863	0	0
ZMYM4	9202	broad.mit.edu	37	1	35862210	35862210	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:35862210T>G	ENST00000314607.6	+	19	3049	c.2969T>G	c.(2968-2970)gTt>gGt	p.V990G	ZMYM4_ENST00000373297.2_Missense_Mutation_p.V901G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	990					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGTGTTTGTTCCCATACCT	0.403000													31	52					0	0	0.064281	0	0
OXCT1	5019	broad.mit.edu	37	5	41861486	41861486	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:41861486G>T	ENST00000196371.5	-	3	368	c.208C>A	c.(208-210)Cca>Aca	p.P70T		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	70					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AGATTCTCTGGAATTCCACAT	0.348000													33	57					1.414e-09	1.47265e-09	0.064281	1	0
C6orf120	387263	broad.mit.edu	37	6	170102842	170102842	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:170102842C>T	ENST00000332290.2	+	1	586	c.287C>T	c.(286-288)tCg>tTg	p.S96L	C6orf120_ENST00000439249.1_Missense_Mutation_p.S115L	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	96						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		GAGCTGCAATCGGCCACCTGC	0.662000													34	4					0	0	0.064281	0	0
PPIE	10450	broad.mit.edu	37	1	40209570	40209570	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:40209570G>C	ENST00000324379.5	+	6	377	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	PPIE_ENST00000356511.2_Missense_Mutation_p.E120Q|PPIE_ENST00000372830.1_Missense_Mutation_p.E120Q|PPIE_ENST00000470213.1_Missense_Mutation_p.E120Q|PPIE_ENST00000480169.1_3'UTR	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	120					protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|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;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAAGGGTCAGAGCCTCCCAA	0.448000													9	17					0	0	0.058154	0	0
ZNF345	25850	broad.mit.edu	37	19	37369090	37369090	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:37369090T>G	ENST00000529555.1	+	2	2146	c.1358T>G	c.(1357-1359)cTt>cGt	p.L453R	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.L453R|ZNF345_ENST00000589046.1_Missense_Mutation_p.L453R|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	453					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGAGAAACTTTATGAATGT	0.408000													42	76					0	0	0.104719	0	0
POLE	5426	broad.mit.edu	37	12	133210782	133210782	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:133210782C>G	ENST00000320574.5	-	43	6037	c.5994G>C	c.(5992-5994)atG>atC	p.M1998I	POLE_ENST00000535270.1_Missense_Mutation_p.M1971I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1998					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGAAACAATCATGAGGAAGT	0.527000								DNA polymerases (catalytic subunits)					45	120					0	0	0.139131	0	0
XPC	7508	broad.mit.edu	37	3	14212037	14212037	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:14212037C>G	ENST00000285021.7	-	3	527	c.313G>C	c.(313-315)Gac>Cac	p.D105H	XPC_ENST00000449060.2_Missense_Mutation_p.D105H	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	105	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTTGAGGTCACTTGGAAAG	0.433000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				16	470					0	0	0.033300	0	0
TTN	7273	broad.mit.edu	37	2	179498547	179498547	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:179498547A>C	ENST00000589042.1	-	231	42903	c.42679T>G	c.(42679-42681)Tta>Gta	p.L14227V	TTN_ENST00000359218.5_Missense_Mutation_p.L5287V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L11659V|TTN_ENST00000591111.1_Missense_Mutation_p.L12586V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L5354V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L5162V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12586	Fibronectin type-III 3.						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)			CATTTACCTAAGACCTTCAGC	0.368000													40	73					0	0	0.092188	0	0
UGT2B15	7366	broad.mit.edu	37	4	69520865	69520865	+	Silent	SNP	A	A	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:69520865A>C	ENST00000338206.5	-	4	1050	c.1041T>G	c.(1039-1041)acT>acG	p.T347T		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	347					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGGAACCTAAAGTATTTGGCT	0.358000													32	68					0	0	0.059317	0	0
RAI1	10743	broad.mit.edu	37	17	17700331	17700331	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:17700331C>G	ENST00000353383.1	+	3	4538	c.4069C>G	c.(4069-4071)Ctg>Gtg	p.L1357V	RAI1_ENST00000261641.6_Missense_Mutation_p.L1357V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1357						cytoplasm|nucleus	zinc ion binding	p.L1357M(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGTAATCCTCTGAGCCCATC	0.622000													25	78					0	0	0.076483	0	0
CCDC65	85478	broad.mit.edu	37	12	49312217	49312217	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:49312217G>C	ENST00000266984.5	+	5	996	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.E257Q			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	257										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						GAGCTCCAAAGAGATTGAAGT	0.428000													19	41					0	0	0.038395	0	0
LILRB1	10859	broad.mit.edu	37	19	55143939	55143939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:55143939C>G	ENST00000396331.1	+	7	1043	c.686C>G	c.(685-687)tCa>tGa	p.S229*	LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S229*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S229*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S229*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S229*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S229*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S229*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S229*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S229*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S265*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S229*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	229	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S229*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCATCACTCTCAGTGCAGCCA	0.557000										HNSCC(37;0.09)			65	67					0	0	0.139131	0	0
LENEP	55891	broad.mit.edu	37	1	154966176	154966176	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:154966176G>C	ENST00000392487.1	+	1	113	c.93G>C	c.(91-93)aaG>aaC	p.K31N				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	31					multicellular organismal development		DNA binding			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGTCATTAAGATGGGCACAG	0.607000													9	46					0	0	0.047766	0	0
FTL	2512	broad.mit.edu	37	19	49468776	49468776	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:49468776G>T	ENST00000331825.6	+	1	219	c.12G>T	c.(10-12)caG>caT	p.Q4H		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	4					cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TGAGCTCCCAGATTCGTCAGA	0.562000													38	58					6.19805e-25	6.63867e-25	0.080422	1	0
DTX4	23220	broad.mit.edu	37	11	58956663	58956663	+	Silent	SNP	G	G	A	rs61736707		TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:58956663G>A	ENST00000227451.3	+	4	1130	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.A236A	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	342					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				TGAGTGCAGCGGGGCTGCCTG	0.547000													8	26					0	0	0.038147	0	0
FASTK	10922	broad.mit.edu	37	7	150774982	150774982	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:150774982G>A	ENST00000297532.6	-	5	1100	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	FASTK_ENST00000353841.2_Silent_p.F200F|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Silent_p.F314F|FASTK_ENST00000540185.1_3'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	341					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TGTAGTTGATGAAGCCAGGGG	0.622000													34	28					0	0	0.050027	0	0
WIF1	11197	broad.mit.edu	37	12	65462577	65462577	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:65462577G>C	ENST00000286574.4	-	4	879	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	169	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ATAGCATTTTGAGGTGTTTGG	0.408000			T	HMGA2	pleomorphic salivary gland adenoma								45	49					0	0	0.124865	0	0
GLTPD2	388323	broad.mit.edu	37	17	4692582	4692582	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:4692582C>A	ENST00000331264.7	+	2	221	c.168C>A	c.(166-168)ttC>ttA	p.F56L		NM_001014985.2	NP_001014985			glycolipid transfer protein domain containing 2											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						CGGCGCCCTTCCAGGTACGCT	0.711000													21	4					7.41877e-09	7.67342e-09	0.062417	1	0
CCDC110	256309	broad.mit.edu	37	4	186380652	186380652	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:186380652G>C	ENST00000307588.3	-	6	1164	c.1089C>G	c.(1087-1089)atC>atG	p.I363M	CCDC110_ENST00000510617.1_Missense_Mutation_p.I363M|CCDC110_ENST00000393540.3_Missense_Mutation_p.I326M	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	363						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTGCCAGTGATGGGAATTT	0.318000													38	69					0	0	0.098360	0	0
RADIL	55698	broad.mit.edu	37	7	4876217	4876217	+	Silent	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:4876217C>A	ENST00000399583.3	-	3	742	c.555G>T	c.(553-555)cgG>cgT	p.R185R	RADIL_ENST00000536091.1_Silent_p.R185R|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	185					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTGCAGCCTCCGGGCCTGGG	0.647000													17	30					4.7546e-09	4.92908e-09	0.146539	1	0
SUPT3H	8464	broad.mit.edu	37	6	44929511	44929511	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:44929511C>T	ENST00000371460.1	-	9	909	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	SUPT3H_ENST00000371461.2_Missense_Mutation_p.E198K|SUPT3H_ENST00000371459.1_Missense_Mutation_p.E187K|SUPT3H_ENST00000306867.5_Missense_Mutation_p.E187K	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	269					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TGTCGACTTTCACAGAATTCT	0.289000													21	36					0	0	0.069288	0	0
NUTF2	10204	broad.mit.edu	37	16	67899100	67899100	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:67899100G>C	ENST00000219169.4	+	2	350	c.67G>C	c.(67-69)Gat>Cat	p.D23H	NUTF2_ENST00000569436.2_Missense_Mutation_p.D23H|NUTF2_ENST00000568396.2_Missense_Mutation_p.D23H	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	23	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAGTTATTTGATAATGATAG	0.493000													17	21					0	0	0.033300	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407057	75407057	+	Missense_Mutation	SNP	G	G	A	rs77249183	by1000genomes	TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:75407057G>A	ENST00000394810.2	-	4	2502	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R561W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	785	Pro-rich.					cytoplasm|cytoskeleton	actin binding	p.R561G(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CTTCTAGGCCGAGGGCCAAGA	0.602000													68	41					0	0	0.139131	0	0
USP34	9736	broad.mit.edu	37	2	61528241	61528241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:61528241G>A	ENST00000398571.2	-	29	4049	c.3973C>T	c.(3973-3975)Cag>Tag	p.Q1325*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1325					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCTGGCAGCTGAACACCTTCC	0.393000													43	148					0	0	0.139131	0	0
MKI67	4288	broad.mit.edu	37	10	129904707	129904707	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:129904707C>T	ENST00000368654.3	-	13	5772	c.5397G>A	c.(5395-5397)ttG>ttA	p.L1799L	MKI67_ENST00000368653.3_Silent_p.L1439L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1799	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGAGTTCCCAAAAACGTGT	0.463000													43	82					0	0	0.098360	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148885149	148885149	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:148885149G>C	ENST00000261798.5	-	9	1299	c.867C>G	c.(865-867)aaC>aaG	p.N289K	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.N317K|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.N86K|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.N228K|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.N289K|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.N200K|CSNK1A1_ENST00000606299.1_Missense_Mutation_p.N49K	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	289					cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CATATTGATGGTTCAGGGTCC	0.413000													34	186					0	0	0.054565	0	0
CCR6	1235	broad.mit.edu	37	6	167549792	167549792	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:167549792C>G	ENST00000341935.5	+	3	626	c.74C>G	c.(73-75)tCa>tGa	p.S25*	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Nonsense_Mutation_p.S25*|CCR6_ENST00000349984.4_Nonsense_Mutation_p.S25*	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	25					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GTCAATACTTCATATTACTCA	0.418000													73	18					0	0	0.139131	0	0
PNPT1	87178	broad.mit.edu	37	2	55870295	55870295	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:55870295G>A	ENST00000447944.2	-	25	2153	c.2067C>T	c.(2065-2067)atC>atT	p.I689I		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	689	S1 motif.				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GATATTACCTGATTTCAGTTA	0.403000													5	45					0	0	0.014758	0	0
FITM1	161247	broad.mit.edu	37	14	24601589	24601589	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr14:24601589G>A	ENST00000267426.5	+	2	725	c.436G>A	c.(436-438)Gag>Aag	p.E146K	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	146					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCTGCTCATCGAGGACCTGAC	0.701000													50	43					0	0	0.139131	0	0
ZNF746	155061	broad.mit.edu	37	7	149191098	149191098	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:149191098C>T	ENST00000461958.2	-	3	584	c.388G>A	c.(388-390)Gag>Aag	p.E130K	ZNF746_ENST00000458143.2_Missense_Mutation_p.E130K|ZNF746_ENST00000340622.3_Missense_Mutation_p.E130K			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	130	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACCAGCGTCTCGTAGTTGCCC	0.512000													33	100					0	0	0.045705	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488447	84488447	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:84488447C>T	ENST00000416219.2	+	21	2093	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	ATP2C2_ENST00000262429.4_Silent_p.I668I|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	668					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAGGGGCGATCGTGGCCATGA	0.632000													12	24					0	0	0.080935	0	0
COLGALT1	79709	broad.mit.edu	37	19	17671217	17671217	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:17671217G>C	ENST00000252599.4	+	3	552	c.432G>C	c.(430-432)atG>atC	p.M144I		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		AGCATGTCATGAAGTTGCGCC	0.562000													32	24					0	0	0.050027	0	0
HSPA9	3313	broad.mit.edu	37	5	137892270	137892270	+	Silent	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:137892270C>G	ENST00000297185.3	-	16	1958	c.1833G>C	c.(1831-1833)ctG>ctC	p.L611L	HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	611					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTCTTCTTTCAGCTTGTTGC	0.368000													30	52					0	0	0.125774	0	0
ZNF239	8187	broad.mit.edu	37	10	44052570	44052570	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:44052570C>G	ENST00000306006.6	-	2	1610	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	ZNF239_ENST00000535642.1_Missense_Mutation_p.E320Q|ZNF239_ENST00000374446.2_Missense_Mutation_p.E320Q|ZNF239_ENST00000426961.1_Missense_Mutation_p.E320Q	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCCTCACACTCATAGGGCTTC	0.522000													7	64					0	0	0.029380	0	0
SCLT1	132320	broad.mit.edu	37	4	129864262	129864262	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:129864262C>T	ENST00000281142.5	-	17	2024	c.1521G>A	c.(1519-1521)ggG>ggA	p.G507G	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	507						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CACTGACAAGCCCACAGTTCT	0.378000													4	48					0	0	0.009096	0	0
SDCBP	6386	broad.mit.edu	37	8	59492297	59492297	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr8:59492297C>G	ENST00000523483.1	+	8	2268	c.754C>G	c.(754-756)Ctt>Gtt	p.L252V	SDCBP_ENST00000520168.1_Missense_Mutation_p.L173V|SDCBP_ENST00000424270.2_Missense_Mutation_p.L226V|SDCBP_ENST00000260130.4_Missense_Mutation_p.L232V|SDCBP_ENST00000447182.2_Missense_Mutation_p.L231V|SDCBP_ENST00000422546.2_Missense_Mutation_p.L231V|SDCBP_ENST00000413219.2_Missense_Mutation_p.L232V|SDCBP_ENST00000447267.2_Missense_Mutation_p.L178V			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	232	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAGAAATGGTCTTCTCACGGA	0.378000													8	147					0	0	0.058154	0	0
ETV1	2115	broad.mit.edu	37	7	13978873	13978873	+	Splice_Site	SNP	T	T	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:13978873T>A	ENST00000343495.5	-	6	920		c.e6-2		ETV1_ENST00000405358.4_Splice_Site|ETV1_ENST00000399357.3_Splice_Site|ETV1_ENST00000420159.2_Splice_Site|ETV1_ENST00000403685.1_Splice_Site|ETV1_ENST00000405218.2_Splice_Site|ETV1_ENST00000242066.5_Splice_Site|ETV1_ENST00000405192.2_Splice_Site|ETV1_ENST00000430479.1_Splice_Site|ETV1_ENST00000476720.2_Splice_Site|ETV1_ENST00000403527.1_Splice_Site			P50549	ETV1_HUMAN	ets variant 1						transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAAAGCCACTAGAAAAAAGA	0.363000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								8	49					0	0	0.038147	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958723	111958723	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:111958723C>G	ENST00000305815.5	-	12	1662	c.1410G>C	c.(1408-1410)atG>atC	p.M470I	SLC9C1_ENST00000487372.1_Missense_Mutation_p.M422I	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	470					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTTTCTCAATCATGTTCCAAT	0.343000													12	33					0	0	0.080935	0	0
ZNF318	24149	broad.mit.edu	37	6	43323783	43323783	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:43323783G>A	ENST00000361428.2	-	4	1366	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L	ZNF318_ENST00000318149.3_Missense_Mutation_p.S430L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	430					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCAATCTCTGAGGCAAAAGC	0.522000													50	12					0	0	0.139131	0	0
CRMP1	1400	broad.mit.edu	37	4	5862887	5862887	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:5862887G>A	ENST00000324989.7	-	3	609	c.521C>T	c.(520-522)gCc>gTc	p.A174V	CRMP1_ENST00000512574.1_Missense_Mutation_p.A58V|CRMP1_ENST00000397890.2_Missense_Mutation_p.A60V|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	60					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCGCCCGTTGGCTTCAATGGT	0.498000													29	34					0	0	0.125774	0	0
DNAH11	8701	broad.mit.edu	37	7	21628186	21628186	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:21628186G>A	ENST00000328843.6	+	11	1936	c.1905G>A	c.(1903-1905)atG>atA	p.M635I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M635I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	635	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGGAAATATGAAATGGGCCC	0.393000									Kartagener syndrome				16	116					0	0	0.132662	0	0
ZIK1	284307	broad.mit.edu	37	19	58101646	58101646	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:58101646A>C	ENST00000597850.1	+	4	682	c.467A>C	c.(466-468)aAg>aCg	p.K156T	ZIK1_ENST00000536878.2_Missense_Mutation_p.K143T|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.K101T	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCATATGTGAAGTGCTGCCTA	0.488000													19	25					0	0	0.043863	0	0
SUPT16H	11198	broad.mit.edu	37	14	21838056	21838056	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr14:21838056C>G	ENST00000216297.2	-	5	822		c.e5-1			NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)						DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGATATCTATCTGCAGTCAAA	0.378000													21	65					0	0	0.049695	0	0
PDCD5	9141	broad.mit.edu	37	19	33076921	33076921	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:33076921C>T	ENST00000419343.3	+	4	427	c.366C>T	c.(364-366)ctC>ctT	p.L122L	PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000590247.2_Intron|PDCD5_ENST00000586035.1_Intron|PDCD5_ENST00000379316.3_Intron			O14737	PDCD5_HUMAN	programmed cell death 5						apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					TGCTGACTCTCAGAAGAAATT	0.408000													12	4					0	0	0.080935	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808281	18808281	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:18808281G>A	ENST00000400664.1	+	1	858	c.806G>A	c.(805-807)cGa>cAa	p.R269Q		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	269						integral to membrane		p.R269Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGCGTCCGAATGGAGGAG	0.592000													42	69					0	0	0.104719	0	0
SNPH	9751	broad.mit.edu	37	20	1285969	1285969	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:1285969G>A	ENST00000381867.1	+	7	1530	c.888G>A	c.(886-888)ctG>ctA	p.L296L	SNPH_ENST00000381873.3_Silent_p.L252L			O15079	SNPH_HUMAN	syntaphilin	252					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGACACACTGAGCCGGACGG	0.687000													30	57					0	0	0.134883	0	0
CLUL1	27098	broad.mit.edu	37	18	619337	619337	+	Silent	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr18:619337G>C	ENST00000581619.1	+	3	1153	c.306G>C	c.(304-306)ctG>ctC	p.L102L	CLUL1_ENST00000579494.1_Silent_p.L77L|CLUL1_ENST00000338387.7_Silent_p.L77L|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000540035.1_Silent_p.L129L|CLUL1_ENST00000400606.2_Silent_p.L77L			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	77					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGAGCACCCTGAAGAAATGCA	0.388000													11	44					0	0	0.080935	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563091	129563091	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:129563091C>G	ENST00000422113.2	-	8	2429	c.2103G>C	c.(2101-2103)caG>caC	p.Q701H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.Q239H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	701						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTTTTGGCCTCTGCAGAAGTT	0.607000													21	69					0	0	0.049695	0	0
ILF3	3609	broad.mit.edu	37	19	10794608	10794608	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:10794608G>A	ENST00000449870.1	+	17	2350	c.2033G>A	c.(2032-2034)aGc>aAc	p.S678N	ILF3_ENST00000592763.1_Missense_Mutation_p.S678N|ILF3_ENST00000590261.1_Missense_Mutation_p.S674N|ILF3_ENST00000588657.1_Missense_Mutation_p.S678N|ILF3_ENST00000318511.3_Missense_Mutation_p.S674N|ILF3_ENST00000407004.3_Missense_Mutation_p.S678N|ILF3_ENST00000250241.8_Missense_Mutation_p.S674N|ILF3_ENST00000589998.1_Missense_Mutation_p.S674N|ILF3_ENST00000420083.1_Missense_Mutation_p.S674N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	674	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGTATGGAAGCTATGGGTAC	0.592000													17	58					0	0	0.069288	0	0
WISP3	8838	broad.mit.edu	37	6	112375585	112375585	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:112375585C>G	ENST00000361714.1	+	1	124	c.79C>G	c.(79-81)Ctt>Gtt	p.L27V	WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000604763.1_Missense_Mutation_p.L9V|WISP3_ENST00000368666.2_Missense_Mutation_p.L9V|WISP3_ENST00000230529.5_Missense_Mutation_p.L9V			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	9					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTTCTCCACTCTTCTGCTTGC	0.572000													90	13					0	0	0.139131	0	0
TGM5	9333	broad.mit.edu	37	15	43533067	43533067	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr15:43533067C>A	ENST00000220420.5	-	7	991	c.984G>T	c.(982-984)aaG>aaT	p.K328N	TGM5_ENST00000349114.4_Missense_Mutation_p.K246N	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	328					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TATCCTTCTTCTTATTCCCCA	0.488000													29	49					3.11337e-16	3.31117e-16	0.054565	1	0
KIFAP3	22920	broad.mit.edu	37	1	170004656	170004656	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:170004656C>G	ENST00000367765.1	-	6	1937	c.436G>C	c.(436-438)Gac>Cac	p.D146H	KIFAP3_ENST00000538366.1_Missense_Mutation_p.D108H|KIFAP3_ENST00000361580.2_Missense_Mutation_p.D186H|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.D142H	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	186					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTTCCAGTCTTCTCTCAGG	0.373000													26	11					0	0	0.091800	0	0
PRKACA	5566	broad.mit.edu	37	19	14204499	14204499	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:14204499C>G	ENST00000308677.4	-	9	1067	c.871G>C	c.(871-873)Gat>Cat	p.D291H	PRKACA_ENST00000589994.1_Missense_Mutation_p.D283H|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	291	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TTCTTGATATCGTTGACCCCA	0.542000													32	95					0	0	0.059317	0	0
UTP3	57050	broad.mit.edu	37	4	71554444	71554444	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:71554444G>A	ENST00000254803.2	+	1	249	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	17					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GCAGCTGTGCGAGCCAAGGCA	0.582000													6	11					0	0	0.021553	0	0
TOM1L1	10040	broad.mit.edu	37	17	53016305	53016305	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:53016305G>C	ENST00000575882.1	+	11	1407	c.1054G>C	c.(1054-1056)Gat>Cat	p.D352H	TOM1L1_ENST00000348161.4_Missense_Mutation_p.D275H|TOM1L1_ENST00000445275.2_Missense_Mutation_p.D352H|TOM1L1_ENST00000572158.1_Missense_Mutation_p.D345H|TOM1L1_ENST00000536554.1_Missense_Mutation_p.D275H|TOM1L1_ENST00000540336.1_Missense_Mutation_p.D240H	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	352					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCCAAGTTCTGATGTAACAAA	0.373000													36	21					0	0	0.059317	0	0
AMOT	154796	broad.mit.edu	37	X	112058802	112058802	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chrX:112058802T>G	ENST00000371959.3	-	2	1175	c.1176A>C	c.(1174-1176)caA>caC	p.Q392H	AMOT_ENST00000524145.1_Missense_Mutation_p.Q392H|AMOT_ENST00000371958.1_Missense_Mutation_p.Q160H|AMOT_ENST00000371962.1_Missense_Mutation_p.Q160H|AMOT_ENST00000304758.1_5'UTR	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	392					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgttgttggtggtgat	0.582000													14	23					0	0	0.105934	0	0
EPHA3	2042	broad.mit.edu	37	3	89259290	89259290	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:89259290C>G	ENST00000336596.2	+	3	659	c.434C>G	c.(433-435)aCc>aGc	p.T145S	EPHA3_ENST00000494014.1_Missense_Mutation_p.T145S|EPHA3_ENST00000452448.2_Missense_Mutation_p.T145S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	145						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAGATTGACACCATTGCAGCT	0.423000										TSP Lung(6;0.00050)			13	97					0	0	0.093190	0	0
PRPF6	24148	broad.mit.edu	37	20	62660773	62660773	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:62660773G>C	ENST00000535781.1	+	18	2466	c.2355G>C	c.(2353-2355)caG>caC	p.Q785H	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	825					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CAAGGCCCCAGAGGAGGACCA	0.557000													37	77					0	0	0.086207	0	0
MTPAP	55149	broad.mit.edu	37	10	30638054	30638054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:30638054C>A	ENST00000263063.4	-	1	194	c.151G>T	c.(151-153)Gag>Tag	p.E51*	MTPAP_ENST00000488290.1_Intron|MTPAP_ENST00000358107.4_Intron	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCACCTGTCTCCACGCTCCCT	0.602000													36	40					6.29468e-14	6.63216e-14	0.074837	1	0
FAM129A	116496	broad.mit.edu	37	1	184868434	184868434	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:184868434C>G	ENST00000367511.3	-	2	257	c.64G>C	c.(64-66)Gag>Cag	p.E22Q		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	22					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGGCAGCCTCAGTTTTCCCT	0.403000													43	8					0	0	0.124865	0	0
GPR98	84059	broad.mit.edu	37	5	89924386	89924386	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:89924386G>A	ENST00000405460.2	+	8	1342	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	416					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGATATGAAGAAATCACAGT	0.383000													7	18					0	0	0.029380	0	0
RB1CC1	9821	broad.mit.edu	37	8	53554922	53554922	+	Missense_Mutation	SNP	C	C	T	rs148736742		TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr8:53554922C>T	ENST00000025008.5	-	18	4849	c.4326G>A	c.(4324-4326)atG>atA	p.M1442I	RB1CC1_ENST00000435644.2_Missense_Mutation_p.M1442I|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.M1442I	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1442					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTACAGACATCATGCTTGTCT	0.408000													51	166					0	0	0.139131	0	0
OBSCN	84033	broad.mit.edu	37	1	228494155	228494155	+	Silent	SNP	T	T	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:228494155T>A	ENST00000570156.2	+	55	14687	c.14613T>A	c.(14611-14613)tcT>tcA	p.S4871S	OBSCN_ENST00000366709.4_Silent_p.S1033S|OBSCN_ENST00000284548.11_Silent_p.S3914S|OBSCN_ENST00000422127.1_Silent_p.S3914S|OBSCN_ENST00000366707.4_Silent_p.S1548S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3914					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGAGCTGTCTGAGCCCACTG	0.701000													11	11					0	0	0.080935	0	0
TIMM44	10469	broad.mit.edu	37	19	7993025	7993025	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:7993025G>C	ENST00000270538.3	-	11	1333	c.1065C>G	c.(1063-1065)atC>atG	p.I355M	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	355					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGGCCTGCTGGATGGGGTGGG	0.642000													4	11					0	0	0.009096	0	0
ETNK2	55224	broad.mit.edu	37	1	204109193	204109193	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:204109193C>T	ENST00000367199.2	-	4	1041	c.631G>A	c.(631-633)Gac>Aac	p.D211N	ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367201.3_Missense_Mutation_p.D280N|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367202.4_Missense_Mutation_p.D280N|ETNK2_ENST00000367198.2_Missense_Mutation_p.D102N			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	280							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGCCAATGTCAAAAGCTTGG	0.463000													17	57					0	0	0.038395	0	0
DEPDC5	9681	broad.mit.edu	37	22	32269279	32269279	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:32269279C>G	ENST00000400246.1	+	35	3666	c.3524C>G	c.(3523-3525)tCt>tGt	p.S1175C	DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1153C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1144C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1175C|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1144C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S1097C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1075C|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1166C|DEPDC5_ENST00000539165.1_5'UTR			O75140	DEPD5_HUMAN	DEP domain containing 5	1144	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCTCATCCTCTACCCTGACA	0.547000													19	62					0	0	0.049695	0	0
ZNF257	113835	broad.mit.edu	37	19	22271842	22271842	+	Silent	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:22271842C>G	ENST00000594947.1	+	4	1434	c.1290C>G	c.(1288-1290)ccC>ccG	p.P430P		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAGAAACCCTACAAATGTG	0.388000													14	40					0	0	0.132662	0	0
TTN	7273	broad.mit.edu	37	2	179610829	179610829	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:179610829T>G	ENST00000360870.5	-	46	16520	c.16298A>C	c.(16297-16299)aAg>aCg	p.K5433T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8940	Ig-like 35.						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)			GTGACTTCCCTTCTCCTCGCT	0.408000													5	101					0	0	0.014758	0	0
ASB8	140461	broad.mit.edu	37	12	48543479	48543479	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:48543479G>A	ENST00000317697.3	-	4	706	c.537C>T	c.(535-537)gtC>gtT	p.V179V	ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Silent_p.V179V|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	179					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TTAGGTTGATGACTCTGACCT	0.527000													49	44					0	0	0.139131	0	0
UTRN	7402	broad.mit.edu	37	6	144872196	144872196	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:144872196G>T	ENST00000367545.3	+	47	6906	c.6906G>T	c.(6904-6906)atG>atT	p.M2302I		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2302					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTTCAGATATGAGAACAGCAA	0.358000													9	44					1.76689e-08	1.82337e-08	0.058154	1	0
PTPRB	5787	broad.mit.edu	37	12	71029718	71029718	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:71029718G>C	ENST00000334414.6	-	2	228	c.184C>G	c.(184-186)Cat>Gat	p.H62D	PTPRB_ENST00000551525.1_Missense_Mutation_p.H61D|PTPRB_ENST00000550358.1_Missense_Mutation_p.H62D|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				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)			GATTTAACATGAAGGAGCTTT	0.542000													7	13					0	0	0.029380	0	0
PRMT1	3276	broad.mit.edu	37	19	50183843	50183843	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:50183843G>A	ENST00000532489.1	+	3	558	c.52G>A	c.(52-54)Gag>Aag	p.E18K	PRMT1_ENST00000391851.4_Missense_Mutation_p.E46K|PRMT1_ENST00000454376.2_Missense_Mutation_p.E64K			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	45						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TGGCATCCACGAGGTCAGTGG	0.562000											OREG0025626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	68					0	0	0.021553	0	0
C4orf21	55345	broad.mit.edu	37	4	113474997	113474997	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:113474997C>T	ENST00000505019.1	-	22	5465	c.5340G>A	c.(5338-5340)ctG>ctA	p.L1780L		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTACCTGCTTCAGCAGGGTTC	0.343000													11	38					0	0	0.069234	0	0
C16orf91	283951	broad.mit.edu	37	16	1470141	1470141	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:1470141C>T	ENST00000310355.1	-	5	873	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	C16orf91_ENST00000563974.1_3'UTR|C16orf91_ENST00000442039.2_3'UTR			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCAAGTCCTTCAGTGCTGAGG	0.607000													20	15					0	0	0.043863	0	0
BRDT	676	broad.mit.edu	37	1	92446491	92446491	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:92446491A>T	ENST00000370389.2	+	10	2211	c.1287A>T	c.(1285-1287)gaA>gaT	p.E429D	BRDT_ENST00000402388.1_Missense_Mutation_p.E502D|BRDT_ENST00000399546.2_Missense_Mutation_p.E502D|BRDT_ENST00000394530.3_Missense_Mutation_p.E456D|BRDT_ENST00000362005.3_Missense_Mutation_p.E502D	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAAAATCTGAAGATGAAGATA	0.338000													6	41					0	0	0.021553	0	0
ZNF654	55279	broad.mit.edu	37	3	88188970	88188970	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:88188970G>A	ENST00000309495.5	+	1	717	c.510G>A	c.(508-510)ctG>ctA	p.L170L	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		attatgaCCTGAATCAAGAAA	0.353000													3	3					0	0	0.115264	0	0
NBAS	51594	broad.mit.edu	37	2	15432878	15432878	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:15432878C>T	ENST00000281513.5	-	41	4835	c.4810G>A	c.(4810-4812)Gaa>Aaa	p.E1604K	NBAS_ENST00000441750.1_Missense_Mutation_p.E1484K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1604										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTGATTAGTTCTTTGGGATCA	0.433000													22	24					0	0	0.062417	0	0
DMTF1	9988	broad.mit.edu	37	7	86813922	86813922	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:86813922G>A	ENST00000414194.2	+	11	2024	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	DMTF1_ENST00000394703.5_Missense_Mutation_p.E344K|DMTF1_ENST00000413276.2_Missense_Mutation_p.E344K|DMTF1_ENST00000331242.7_Missense_Mutation_p.E344K|DMTF1_ENST00000432937.2_Missense_Mutation_p.E256K			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	344	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CAAGGAAGATGAAATCAATCT	0.418000													6	21					0	0	0.029380	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257349	140257349	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:140257349G>A	ENST00000398631.2	+	1	2292	c.2292G>A	c.(2290-2292)ccG>ccA	p.P764P	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGAGCCCGCCCAAGACGG	0.557000													8	16					0	0	0.038147	0	0
INTS12	57117	broad.mit.edu	37	4	106603899	106603899	+	Silent	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:106603899G>C	ENST00000451321.2	-	7	1859	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	INTS12_ENST00000340139.5_Silent_p.L460L|INTS12_ENST00000394735.1_Silent_p.L460L	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	460					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		ATTACTTCTTGAGTTTCTTTT	0.358000													4	124					0	0	0.009096	0	0
DDX55	57696	broad.mit.edu	37	12	124094537	124094537	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:124094537C>T	ENST00000238146.4	+	7	653	c.603C>T	c.(601-603)ttC>ttT	p.F201F	DDX55_ENST00000538744.1_Silent_p.F201F	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	201	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CAGGCCTTTTCTCTGCCACTC	0.552000													40	20					0	0	0.098360	0	0
MROH2B	133558	broad.mit.edu	37	5	41004968	41004968	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:41004968A>T	ENST00000399564.4	-	36	4369	c.3919T>A	c.(3919-3921)Ttg>Atg	p.L1307M	MROH2B_ENST00000506092.2_Missense_Mutation_p.L862M	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGATCCATCAAGATCAGCACA	0.532000													8	17					0	0	0.038147	0	0
PLIN5	440503	broad.mit.edu	37	19	4529859	4529859	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:4529859G>A	ENST00000381848.3	-	4	356	c.276C>T	c.(274-276)ctC>ctT	p.L92L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	92						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCCTGCAGGCGAGGCTGTTCA	0.607000													21	38					0	0	0.069288	0	0
CD300E	342510	broad.mit.edu	37	17	72608872	72608872	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:72608872G>C	ENST00000392619.1	-	4	654	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V	CD300E_ENST00000328630.3_Missense_Mutation_p.L180V|CD300E_ENST00000426295.2_Missense_Mutation_p.L221V	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	180						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCAGCTTCAGAAGGACCACG	0.612000													13	76					0	0	0.105934	0	0
HOXB8	3218	broad.mit.edu	37	17	46691983	46691983	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:46691983G>A	ENST00000239144.4	-	1	318	c.84C>T	c.(82-84)ttC>ttT	p.F28F	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Silent_p.F28F	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GGTCCTGGGCGAAGCCGCAGT	0.567000													6	23					0	0	0.029380	0	0
ZNF470	388566	broad.mit.edu	37	19	57085814	57085814	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:57085814G>A	ENST00000330619.8	+	4	798	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ZNF470_ENST00000601902.1_Missense_Mutation_p.E38K|ZNF470_ENST00000391709.3_Missense_Mutation_p.E38K	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGATGAATGGGAGTGGCTGAA	0.418000													76	29					0	0	0.139131	0	0
TET1	80312	broad.mit.edu	37	10	70333915	70333915	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:70333915C>G	ENST00000373644.4	+	2	2029	c.1820C>G	c.(1819-1821)aCt>aGt	p.T607S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	607	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTGAATGCACTTACTGCAAG	0.443000													42	24					0	0	0.104719	0	0
DKK2	27123	broad.mit.edu	37	4	107956672	107956672	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:107956672G>C	ENST00000285311.3	-	1	782	c.77C>G	c.(76-78)tCa>tGa	p.S26*	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	26					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCGATCTGTGAGCTCTCCAC	0.642000													80	64					0	0	0.139131	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608853	2608853	+	Silent	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:2608853C>A	ENST00000155840.5	+	9	1290	c.1182C>A	c.(1180-1182)atC>atA	p.I394I	KCNQ1_ENST00000335475.5_Silent_p.I267I	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	394					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCTGGAAGATCTACATCCGGA	0.657000													78	55					5.71386e-39	6.16388e-39	0.139131	1	0
LRP2	4036	broad.mit.edu	37	2	170136996	170136996	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:170136996C>A	ENST00000263816.3	-	11	1490	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	LRP2_ENST00000443831.1_Missense_Mutation_p.R402L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	402					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAACAAATCCCGACCATTGGA	0.488000													10	15					1.58986e-06	1.63322e-06	0.069234	1	0
CCKAR	886	broad.mit.edu	37	4	26487278	26487278	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:26487278C>G	ENST00000295589.3	-	3	801	c.607G>C	c.(607-609)Gat>Cat	p.D203H		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	203					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGCATAACATCATTTGGCAGT	0.393000													28	27					0	0	0.108266	0	0
CARM1	10498	broad.mit.edu	37	19	11032085	11032085	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:11032085G>A	ENST00000327064.4	+	15	1840	c.1650G>A	c.(1648-1650)cgG>cgA	p.R550R	CARM1_ENST00000344150.4_Intron	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	550	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCCACTCCCGGATGGGCTCCA	0.652000													72	66					0	0	0.139131	0	0
EPS8	2059	broad.mit.edu	37	12	15794712	15794712	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:15794712C>G	ENST00000281172.5	-	16	2057	c.1621G>C	c.(1621-1623)Gac>Cac	p.D541H	EPS8_ENST00000543612.1_Missense_Mutation_p.D541H|EPS8_ENST00000540613.1_Missense_Mutation_p.D281H|EPS8_ENST00000543523.1_Missense_Mutation_p.D541H|EPS8_ENST00000542903.1_Missense_Mutation_p.D281H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	541	SH3.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GCTACAAAGTCATACTTGGAT	0.289000													41	60					0	0	0.117977	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73971982	73971982	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:73971982G>A	ENST00000476977.1	+	20	3728	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	GTF2IRD1_ENST00000265755.3_Silent_p.A694A|GTF2IRD1_ENST00000424337.2_Silent_p.A679A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.A711A			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	694						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATTATGACGCGAGGCTCTCAC	0.468000													10	21					0	0	0.058154	0	0
FAM174A	345757	broad.mit.edu	37	5	99871657	99871657	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:99871657C>T	ENST00000312637.4	+	1	649	c.423C>T	c.(421-423)gtC>gtT	p.V141V		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	141						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTTCGTGGTCAGGACGGTCA	0.652000													7	26					0	0	0.038147	0	0
ZNF224	7767	broad.mit.edu	37	19	44611091	44611091	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:44611091T>A	ENST00000336976.6	+	6	1032	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	260					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AGAGAAACCTTATAATTGTGA	0.428000													69	151					0	0	0.139131	0	0
IRAK3	11213	broad.mit.edu	37	12	66638281	66638281	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:66638281G>A	ENST00000261233.4	+	9	1324	c.903G>A	c.(901-903)ttG>ttA	p.L301L	IRAK3_ENST00000457197.2_Silent_p.L240L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	301	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACATCCTTTTGGATGATCAGT	0.393000													36	26					0	0	0.069456	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			39	7					0	0	0.080422	0	0
TRIO	7204	broad.mit.edu	37	5	14358454	14358454	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:14358454C>T	ENST00000344204.4	+	12	2238	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L	TRIO_ENST00000537187.1_Silent_p.L738L|TRIO_ENST00000509967.2_Silent_p.L689L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	738					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)					TCCAGCAGCTCAGGTGGGCCT	0.582000													28	39					0	0	0.099896	0	0
SAA1	6288	broad.mit.edu	37	11	18291282	18291282	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:18291282C>G	ENST00000405158.2	+	4	433	c.249C>G	c.(247-249)atC>atG	p.I83M	SAA1_ENST00000356524.4_Missense_Mutation_p.I83M|SAA1_ENST00000532858.1_Missense_Mutation_p.I83M	NM_000331.4	NP_000322	P02735	SAA_HUMAN	serum amyloid A1	83					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GAGAGAATATCCAGAGATTCT	0.537000													20	50					0	0	0.076483	0	0
TSC22D1	8848	broad.mit.edu	37	13	45010647	45010647	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr13:45010647C>G	ENST00000261489.2	-	1	334	c.118G>C	c.(118-120)Gat>Cat	p.D40H	TSC22D1_ENST00000458659.2_Intron|TSC22D1_ENST00000501704.2_Intron	NM_006022.3	NP_006013.1	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	969					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TACCTATTATCAAGTCTCACA	0.383000													5	241					0	0	0.014758	0	0
ZNF382	84911	broad.mit.edu	37	19	37117584	37117584	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:37117584T>G	ENST00000435416.1	+	3	2277	c.782T>G	c.(781-783)cTt>cGt	p.L261R	ZNF382_ENST00000423582.1_Missense_Mutation_p.L213R|ZNF382_ENST00000439428.1_Missense_Mutation_p.L261R|ZNF382_ENST00000292928.2_Missense_Mutation_p.L262R			Q96SR6	ZN382_HUMAN	zinc finger protein 382	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCAAGTAATCTTATGGAAAAG	0.403000													11	86					0	0	0.069234	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934100	113934100	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:113934100G>C	ENST00000335953.4	+	2	458	c.78G>C	c.(76-78)caG>caC	p.Q26H	ZBTB16_ENST00000392996.2_Missense_Mutation_p.Q26H	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	26					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGGCCAACCAGATGCGGCTGG	0.607000													8	37					0	0	0.038147	0	0
ZNF292	23036	broad.mit.edu	37	6	87966838	87966838	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:87966838C>G	ENST00000369577.3	+	8	3534	c.3491C>G	c.(3490-3492)tCa>tGa	p.S1164*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.S1159*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGAACAGCTCAAATCCATTT	0.403000													22	5					0	0	0.069288	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30869579	30869579	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:30869579C>T	ENST00000251071.5	-	14	3077	c.2327G>A	c.(2326-2328)cGa>cAa	p.R776Q	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.R443Q|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R727Q|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R776Q|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.R741Q	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	776					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGTTCTTTTCGTGGAGGCAG	0.418000													7	216					0	0	0.029380	0	0
CUL3	8452	broad.mit.edu	37	2	225368470	225368470	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:225368470C>G	ENST00000264414.4	-	9	1614	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	CUL3_ENST00000409777.1_Missense_Mutation_p.D402H|CUL3_ENST00000409096.1_Missense_Mutation_p.D402H|CUL3_ENST00000344951.4_Missense_Mutation_p.D360H	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	426					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAAATACATCTTTTTCTTGC	0.294000													10	5					0	0	0.080935	0	0
CRABP2	1382	broad.mit.edu	37	1	156670374	156670374	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:156670374G>C	ENST00000368222.3	-	3	480	c.326C>G	c.(325-327)tCg>tGg	p.S109W	CRABP2_ENST00000368221.1_Missense_Mutation_p.S109W	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	109					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCTGGTCCACGAGGTCTTGGG	0.537000													5	47					0	0	0.021553	0	0
VEGFB	7423	broad.mit.edu	37	11	64005008	64005008	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:64005008C>G	ENST00000309422.2	+	6	823	c.527C>G	c.(526-528)gCc>gGc	p.A176G	VEGFB_ENST00000426086.2_Missense_Mutation_p.C142W	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	176					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						GGCCCCTCTGCCCACGCTGCA	0.726000													11	25					0	0	0.069234	0	0
FREM2	341640	broad.mit.edu	37	13	39265136	39265136	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr13:39265136G>T	ENST00000280481.7	+	1	3871	c.3655G>T	c.(3655-3657)Gat>Tat	p.D1219Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1219					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCTGATGCTGATGTTCCCCT	0.423000													62	173					5.82089e-37	6.26439e-37	0.139131	1	0
CDK11A	728642	broad.mit.edu	37	1	1635498	1635498	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:1635498C>G	ENST00000356200.3	-	15	1906	c.1672G>C	c.(1672-1674)Gag>Cag	p.E558Q	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Missense_Mutation_p.E591Q|CDK11A_ENST00000404249.3_Missense_Mutation_p.E592Q|CDK11A_ENST00000495016.1_Intron|CDK11A_ENST00000378638.2_Missense_Mutation_p.E558Q|CDK11A_ENST00000358779.5_Missense_Mutation_p.E582Q|CDK11A_ENST00000378633.1_Missense_Mutation_p.E595Q					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AGCAGCAGCTCTGGGGCGCGG	0.652000													3	10					0	0	0.115264	0	0
CHMP4B	128866	broad.mit.edu	37	20	32436342	32436342	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:32436342C>G	ENST00000217402.2	+	2	425	c.260C>G	c.(259-261)tCa>tGa	p.S87*		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	87					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						GGCACATTATCAACCATCGAG	0.577000													34	26					0	0	0.059317	0	0
SEC24B	10427	broad.mit.edu	37	4	110437758	110437758	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:110437758G>C	ENST00000265175.5	+	11	2143	c.2088G>C	c.(2086-2088)ttG>ttC	p.L696F	SEC24B_ENST00000399100.2_Missense_Mutation_p.L661F|SEC24B_ENST00000504968.2_Missense_Mutation_p.L726F	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	696					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGGATATTTGACAATTTTGT	0.308000													14	11					0	0	0.105934	0	0
OPN3	23596	broad.mit.edu	37	1	241761105	241761105	+	Silent	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:241761105G>C	ENST00000366554.2	-	3	994	c.888C>G	c.(886-888)ctC>ctG	p.L296L	OPN3_ENST00000331838.5_Silent_p.L217L|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	296					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATTTAGCAAAGAGGTACGAAA	0.408000													77	11					0	0	0.139131	0	0
CCDC132	55610	broad.mit.edu	37	7	92952941	92952941	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:92952941T>A	ENST00000544910.1	+	22	2004	c.1784T>A	c.(1783-1785)aTg>aAg	p.M595K	CCDC132_ENST00000535481.1_Missense_Mutation_p.M345K|CCDC132_ENST00000541136.1_Missense_Mutation_p.M436K|CCDC132_ENST00000305866.5_Missense_Mutation_p.M625K	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	625										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGCAGATGATGAACATTCTT	0.239000													8	30					0	0	0.038147	0	0
KIF3B	9371	broad.mit.edu	37	20	30898226	30898226	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:30898226C>T	ENST00000375712.3	+	2	813	c.646C>T	c.(646-648)Cat>Tat	p.H216Y		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	216	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	p.H216D(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCGCGTTCTCATGCAATTTT	0.488000													6	57					0	0	0.021553	0	0
CLVS2	134829	broad.mit.edu	37	6	123319061	123319061	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:123319061C>T	ENST00000275162.5	+	2	1474	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CATTGGCTTTCTGCGCACGGA	0.557000													10	84					0	0	0.058154	0	0
CSMD2	114784	broad.mit.edu	37	1	34191065	34191065	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:34191065C>T	ENST00000373381.4	-	17	2756	c.2580G>A	c.(2578-2580)ggG>ggA	p.G860G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	820	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGTGGTAAACCCCGATCAAGG	0.537000													9	18					0	0	0.058154	0	0
RAC2	5880	broad.mit.edu	37	22	37622735	37622735	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:37622735T>G	ENST00000249071.6	-	6	678	c.557A>C	c.(556-558)aAg>aCg	p.K186T	RAC2_ENST00000406508.1_Missense_Mutation_p.K142T|RAC2_ENST00000405484.1_Missense_Mutation_p.K179T	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	186					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCAGGCGCGCTTCTGCTGCCG	0.622000													8	19					0	0	0.047766	0	0
KIAA1524	57650	broad.mit.edu	37	3	108278824	108278824	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:108278824C>T	ENST00000295746.8	-	15	1955	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E468K	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	627						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTTTCATTTCATATACATCC	0.239000													14	45					0	0	0.038395	0	0
KIF3B	9371	broad.mit.edu	37	20	30897869	30897869	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:30897869C>G	ENST00000375712.3	+	2	456	c.289C>G	c.(289-291)Caa>Gaa	p.Q97E		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	97	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCCTATGGACAAACTGGGAC	0.453000													11	91					0	0	0.080935	0	0
CEP104	9731	broad.mit.edu	37	1	3756300	3756300	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:3756300C>G	ENST00000378230.3	-	7	931	c.607G>C	c.(607-609)Gat>Cat	p.D203H		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	203						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGGTACATATCAAAAGCTAAG	0.383000													41	45					0	0	0.098360	0	0
MUC16	94025	broad.mit.edu	37	19	9066445	9066445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:9066445G>A	ENST00000397910.4	-	3	21204	c.21001C>T	c.(21001-21003)Cag>Tag	p.Q7001*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7003	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						ACTGTGGACTGAGAAGGGCCA	0.493000													102	86					0	0	0.139131	0	0
KIDINS220	57498	broad.mit.edu	37	2	8931309	8931309	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:8931309T>C	ENST00000256707.3	-	13	1503	c.1322A>G	c.(1321-1323)gAt>gGt	p.D441G	KIDINS220_ENST00000418530.1_Missense_Mutation_p.D399G|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D442G|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D441G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D441G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	441	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCTATATAAATCATATCCAAG	0.413000													36	38					0	0	0.080422	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661345	40661345	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:40661345G>A	ENST00000454349.2	+	5	1322	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.D371N|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	371					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TCATAACACTGATGGACCAAA	0.448000													12	56					0	0	0.105934	0	0
KIAA0195	9772	broad.mit.edu	37	17	73487838	73487838	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:73487838G>C	ENST00000314256.7	+	14	1847	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q	KIAA0195_ENST00000375248.5_Missense_Mutation_p.E495Q|KIAA0195_ENST00000579208.1_Missense_Mutation_p.E136Q	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	485					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAATGAGCAGGAGCGTGGCGA	0.617000													14	54					0	0	0.119110	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684060	3684060	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:3684060C>G	ENST00000344754.4	-	5	1011	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E338Q	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	338	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCTGGTTCTCCAGGATGGGA	0.602000													32	30					0	0	0.054565	0	0
ZNF844	284391	broad.mit.edu	37	19	12187239	12187239	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:12187239T>G	ENST00000439326.3	+	4	1479	c.1304T>G	c.(1303-1305)tTc>tGc	p.F435C	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CCACTTCCTTTCGATATCATG	0.433000													17	61					0	0	0.146539	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123649942	123649942	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:123649942C>G	ENST00000606320.1	-	18	2880	c.2674G>C	c.(2674-2676)Gac>Cac	p.D892H	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D862H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D740H|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D740H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	740					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATCGGCGTGTCTGAAGTCTCT	0.378000													35	86					0	0	0.059317	0	0
CNTF	1270	broad.mit.edu	37	11	58391533	58391533	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:58391533C>T	ENST00000361987.4	+	2	221	c.141C>T	c.(139-141)aaC>aaT	p.N47N	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	47					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGAACAAGAACATCAACCTGG	0.512000													29	28					0	0	0.050027	0	0
MUC3A	4584	broad.mit.edu	37	7	100552038	100552038	+	Silent	SNP	T	T	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:100552038T>A	ENST00000319509.7	+	1	789	c.789T>A	c.(787-789)gtT>gtA	p.V263V						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTCATTCTGTTCCTTCTTCAC	0.443000													12	712					0	0	0.093190	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971611	34971611	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr9:34971611C>A	ENST00000242315.3	+	2	398	c.316C>A	c.(316-318)Cgc>Agc	p.R106S	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R106S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	106							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGCGTTCATCCGCCCCACCCG	0.602000													4	186					0.014758	0.0148566	0.014758	1	0
MUC16	94025	broad.mit.edu	37	19	9002511	9002511	+	Silent	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:9002511G>C	ENST00000397910.4	-	51	40508	c.40305C>G	c.(40303-40305)ctC>ctG	p.L13435L	MUC16_ENST00000380951.5_Silent_p.L76L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13437	SEA 9.				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						CATTGACATAGAGACTGTGCC	0.562000													37	228					0	0	0.092188	0	0
DMD	1756	broad.mit.edu	37	X	32827620	32827620	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chrX:32827620G>A	ENST00000357033.4	-	7	845	c.639C>T	c.(637-639)ctC>ctT	p.L213L	DMD_ENST00000288447.4_Silent_p.L205L|DMD_ENST00000378677.2_Silent_p.L209L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	213	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCAGGATCGAGTAGTTTCT	0.388000													18	31					0	0	0.049695	0	0
KIFAP3	22920	broad.mit.edu	37	1	170004663	170004663	+	Silent	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:170004663C>G	ENST00000367765.1	-	6	1930	c.429G>C	c.(427-429)ctG>ctC	p.L143L	KIFAP3_ENST00000538366.1_Silent_p.L105L|KIFAP3_ENST00000361580.2_Silent_p.L183L|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Silent_p.L139L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	183					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTCTTCTCTCAGGACCCTTG	0.363000													24	10					0	0	0.091800	0	0
HCRTR1	3061	broad.mit.edu	37	1	32089201	32089201	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:32089201G>A	ENST00000403528.2	+	7	1201	c.816G>A	c.(814-816)ctG>ctA	p.L272L	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373706.5_Silent_p.L272L|HCRTR1_ENST00000373705.1_Silent_p.L272L	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	272					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AGCAGGGCCTGAGTGGAGAGC	0.652000													6	21					0	0	0.021553	0	0
NUP205	23165	broad.mit.edu	37	7	135330313	135330313	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:135330313G>A	ENST00000285968.6	+	41	5807	c.5781G>A	c.(5779-5781)tcG>tcA	p.S1927S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1927					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.S1927S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATTTGCCTCGAGAACCTTGT	0.378000											OREG0018343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	104					0	0	0.054565	0	0
CXCR5	643	broad.mit.edu	37	11	118764412	118764412	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:118764412C>T	ENST00000292174.4	+	2	335	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	53					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		AGGCCGTGTTCGTGCCCGTGG	0.607000													43	87					0	0	0.098360	0	0
TTN	7273	broad.mit.edu	37	2	179395276	179395276	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:179395276C>G	ENST00000589042.1	-	358	106290	c.106066G>C	c.(106066-106068)Gaa>Caa	p.E35356Q	TTN_ENST00000359218.5_Missense_Mutation_p.E26416Q|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32788Q|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33715Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26483Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26291Q|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33715							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)			CAAACATATTCTCCTTGATCA	0.378000													55	11					0	0	0.139131	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929758	105929758	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:105929758C>G	ENST00000526793.1	-	2	226	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531482.2_Missense_Mutation_p.E23Q|KBTBD3_ENST00000531837.1_Missense_Mutation_p.E23Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	19				N -> S (in Ref. 1; BAC04012).						NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTTTTCTTCTCAGATGGAATT	0.303000													20	23					0	0	0.062417	0	0
PADI4	23569	broad.mit.edu	37	1	17634799	17634799	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:17634799G>C	ENST00000375448.4	+	1	108	c.82G>C	c.(82-84)Gac>Cac	p.D28H	PADI4_ENST00000375453.1_Missense_Mutation_p.D28H	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	28					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GACTCAGCTTGACATCTGCAG	0.602000													7	26					0	0	0.029380	0	0
BRD2	6046	broad.mit.edu	37	6	32947780	32947780	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:32947780G>C	ENST00000395289.2	+	12	3723	c.2122G>C	c.(2122-2124)Gag>Cag	p.E708Q	BRD2_ENST00000395287.1_Missense_Mutation_p.E708Q|BRD2_ENST00000374831.4_Missense_Mutation_p.E673Q|BRD2_ENST00000449085.2_Missense_Mutation_p.E626Q|BRD2_ENST00000443797.2_Missense_Mutation_p.E553Q|BRD2_ENST00000374825.4_Missense_Mutation_p.E673Q			P25440	BRD2_HUMAN	bromodomain containing 2	673	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCAAGCCAGGGAGCCCTCTTT	0.493000													23	3					0	0	0.062417	0	0
TSC22D2	9819	broad.mit.edu	37	3	150176259	150176259	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:150176259G>C	ENST00000361875.3	+	4	3195	c.2179G>C	c.(2179-2181)Gaa>Caa	p.E727Q	TSC22D2_ENST00000361136.2_Missense_Mutation_p.E703Q	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2								sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCTTTACTTGAACGAGAAAA	0.378000													31	67					0	0	0.134883	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525827	42525827	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr22:42525827C>T	ENST00000360608.5	-	2	379	c.265G>A	c.(265-267)Gag>Aag	p.E89K	CYP2D6_ENST00000359033.4_Missense_Mutation_p.E89K|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.E89K	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	89							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCAGCGCCTCGCGCACGGCC	0.716000													14	10					0	0	0.119110	0	0
ACTN2	88	broad.mit.edu	37	1	236912460	236912460	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:236912460C>T	ENST00000366578.4	+	14	1718	c.1552C>T	c.(1552-1554)Cac>Tac	p.H518Y	ACTN2_ENST00000546208.1_Missense_Mutation_p.H12Y|ACTN2_ENST00000542672.1_Missense_Mutation_p.H518Y	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	518					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGATCAGCTTCACCTGGAGTT	0.398000													52	7					0	0	0.139131	0	0
MAN1B1	11253	broad.mit.edu	37	9	139994264	139994264	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr9:139994264G>A	ENST00000371589.4	+	6	920	c.847G>A	c.(847-849)Gag>Aag	p.E283K	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	283					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GTCCTTCAGTGAGTGGTTTGG	0.572000													6	59					0	0	0.021553	0	0
AVL9	23080	broad.mit.edu	37	7	32598174	32598174	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:32598174C>G	ENST00000318709.4	+	9	834	c.613C>G	c.(613-615)Ctt>Gtt	p.L205V	AVL9_ENST00000409301.1_Missense_Mutation_p.L205V|AVL9_ENST00000404479.1_Missense_Mutation_p.L205V	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	205						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATTCCAGGTTCTTTTTTATAT	0.333000													11	51					0	0	0.069234	0	0
LEPREL1	55214	broad.mit.edu	37	3	189712006	189712006	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:189712006C>T	ENST00000319332.5	-	3	897	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E53K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	234					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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 3-dioxygenase activity	p.E234K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AAGGCTTGTTCGAAGTGCCTG	0.408000													43	27					0	0	0.117977	0	0
SH3RF1	57630	broad.mit.edu	37	4	170037711	170037711	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:170037711G>A	ENST00000284637.9	-	10	2189	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	616						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ATGCAGGGCTGAGGCCGGCGG	0.612000													27	73					0	0	0.099896	0	0
PCNT	5116	broad.mit.edu	37	21	47831859	47831859	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr21:47831859C>T	ENST00000359568.5	+	28	5979	c.5872C>T	c.(5872-5874)Cac>Tac	p.H1958Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1958					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCCACAGCTCACACACGGGT	0.701000													8	12					0	0	0.047766	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424219	69424219	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chrX:69424219G>C	ENST00000333026.3	+	6	812	c.712G>C	c.(712-714)Gag>Cag	p.E238Q		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	238					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GACCTTCCCTGAGGGCACGTG	0.488000													9	12					0	0	0.047766	0	0
CARM1	10498	broad.mit.edu	37	19	11031748	11031748	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:11031748G>C	ENST00000327064.4	+	14	1750	c.1560G>C	c.(1558-1560)ttG>ttC	p.L520F	CARM1_ENST00000344150.4_Missense_Mutation_p.L520F	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	520	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCTATGACTTGAGCAGTGTTA	0.662000													17	23					0	0	0.049695	0	0
CCDC129	223075	broad.mit.edu	37	7	31692218	31692218	+	Silent	SNP	T	T	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:31692218T>C	ENST00000319386.3	+	14	3459	c.2466T>C	c.(2464-2466)acT>acC	p.T822T	CCDC129_ENST00000451887.2_Silent_p.T996T|CCDC129_ENST00000409210.1_Silent_p.T878T|CCDC129_ENST00000407970.3_Silent_p.T970T			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	970	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATGGGCAGACTTCATGTTCTA	0.507000													7	13					0	0	0.029380	0	0
PCNP	57092	broad.mit.edu	37	3	101304280	101304280	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:101304280G>C	ENST00000265260.3	+	3	400		c.e3-1		PCNP_ENST00000469941.1_Splice_Site|PCNP_ENST00000486406.1_Intron|PCNP_ENST00000296024.5_Splice_Site	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein						cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						TTCTTCTTCAGAAGCCTAAAG	0.279000													26	29					0	0	0.116897	0	0
MYO5C	55930	broad.mit.edu	37	15	52531977	52531977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr15:52531977G>A	ENST00000261839.7	-	21	2817	c.2656C>T	c.(2656-2658)Cag>Tag	p.Q886*	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	886						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TAAGTAAGCTGAATATTAAGC	0.458000													19	31					0	0	0.055883	0	0
CYP2E1	1571	broad.mit.edu	37	10	135352447	135352447	+	Silent	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:135352447C>G	ENST00000463117.2	+	11	1733	c.1461C>G	c.(1459-1461)ctC>ctG	p.L487L	CYP2E1_ENST00000252945.3_Silent_p.L487L|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	487					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTTACAAACTCTGTGTCATTC	0.448000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				5	32					0	0	0.014758	0	0
TAF1L	138474	broad.mit.edu	37	9	32634550	32634550	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr9:32634550G>C	ENST00000242310.4	-	1	1117	c.1028C>G	c.(1027-1029)tCa>tGa	p.S343*	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	343					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCTCCAGTTGATTGGGAAAA	0.493000													37	45					0	0	0.069456	0	0
COL17A1	1308	broad.mit.edu	37	10	105798197	105798197	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:105798197C>G	ENST00000353479.5	-	45	3327	c.3037G>C	c.(3037-3039)Gag>Cag	p.E1013Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.E968Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1013	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGCTGAATCTCCTGGCCAGAG	0.602000													132	75					0	0	0.139131	0	0
XIRP2	129446	broad.mit.edu	37	2	168102447	168102447	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:168102447A>C	ENST00000409195.1	+	9	4634	c.4545A>C	c.(4543-4545)gaA>gaC	p.E1515D	XIRP2_ENST00000295237.9_Missense_Mutation_p.E1515D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1293D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1340					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGACCAAGGAAGAAATCCCTC	0.358000													23	36					0	0	0.076483	0	0
PYGO2	90780	broad.mit.edu	37	1	154931607	154931607	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:154931607C>A	ENST00000368457.2	-	3	1040	c.869G>T	c.(868-870)aGt>aTt	p.S290I	PYGO2_ENST00000368456.1_Missense_Mutation_p.S253I	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	290	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGGGGGGAAACTGGGCTGGTT	0.667000													16	4					4.7546e-09	4.92908e-09	0.146539	1	0
P2RY1	5028	broad.mit.edu	37	3	152554634	152554634	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:152554634G>A	ENST00000305097.3	+	1	1899	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	355					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ATCCAAGAGTGAAGACATGAC	0.433000													4	55					0	0	0.009096	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220325067	220325067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:220325067G>A	ENST00000358951.2	-	34	4023	c.3907C>T	c.(3907-3909)Cag>Tag	p.Q1303*		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1303					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACCAGCAGCTGAGAGGCAAGG	0.493000													21	71					0	0	0.049695	0	0
TYK2	7297	broad.mit.edu	37	19	10461511	10461511	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:10461511C>T	ENST00000525621.1	-	25	4044	c.3563G>A	c.(3562-3564)tGa>tAa	p.*1188*	TYK2_ENST00000264818.6_Silent_p.*1188*|TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000524462.1_Silent_p.*1003*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	0					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CATTGTGCCTCAGCACACGCT	0.597000													22	39					0	0	0.062417	0	0
KCNA5	3741	broad.mit.edu	37	12	5154364	5154364	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:5154364G>A	ENST00000252321.3	+	1	1280	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	351						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CAGCAAGGCAGGGTTCTCCCG	0.612000													14	121					0	0	0.105934	0	0
PCSK1	5122	broad.mit.edu	37	5	95761560	95761560	+	Silent	SNP	G	G	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:95761560G>T	ENST00000311106.3	-	3	597	c.360C>A	c.(358-360)ctC>ctA	p.L120L	PCSK1_ENST00000508626.1_Silent_p.L73L|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	120					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCATTGAAGAGATTTAGTG	0.408000													12	32					1.49906e-05	1.53297e-05	0.119110	1	0
ZNF638	27332	broad.mit.edu	37	2	71650995	71650995	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:71650995G>A	ENST00000409544.1	+	22	4981	c.4351G>A	c.(4351-4353)Gaa>Aaa	p.E1451K	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.E391K|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1451K	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1451					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGGCTTGGCAGAAAGCAGCAG	0.458000													14	27					0	0	0.119110	0	0
PTGS2	5743	broad.mit.edu	37	1	186645143	186645143	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:186645143G>C	ENST00000367468.5	-	8	1280	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	382					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.Q382E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TCATGAATTTGAAAGGTGTCA	0.393000													30	87					0	0	0.134883	0	0
TTN	7273	broad.mit.edu	37	2	179482206	179482206	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:179482206G>C	ENST00000589042.1	-	254	47830	c.47606C>G	c.(47605-47607)tCa>tGa	p.S15869*	TTN_ENST00000359218.5_Nonsense_Mutation_p.S6929*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S13301*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S14228*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S6996*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S6804*|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14228	Fibronectin type-III 15.						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)			AGTCTGATCTGAGGAAGTTAG	0.413000													4	1					0	0	0.009096	0	0
DPPA3	359787	broad.mit.edu	37	12	7869603	7869603	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:7869603T>A	ENST00000345088.2	+	4	527	c.410T>A	c.(409-411)gTg>gAg	p.V137E		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	137						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AGTTTCTGCGTGTCTAATGGA	0.373000													29	90					0	0	0.054565	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344084	38344084	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:38344084C>T	ENST00000374618.3	+	5	1210	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	ZNF33A_ENST00000307441.9_Silent_p.L343L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Silent_p.L350L|ZNF33A_ENST00000458705.2_Silent_p.L343L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGTCACATCTCACTCGACATC	0.408000													84	61					0	0	0.139131	0	0
SCG5	6447	broad.mit.edu	37	15	32935874	32935874	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr15:32935874C>T	ENST00000300175.4	+	2	191	c.81C>T	c.(79-81)taC>taT	p.Y27Y	SCG5_ENST00000413748.2_Silent_p.Y27Y|SCG5_ENST00000494364.1_Silent_p.Y27Y|SCG5_ENST00000497208.1_Silent_p.Y27Y	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	27					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		CATTTGCTTACAGCCCCCGGA	0.532000													28	68					0	0	0.144211	0	0
SLC13A1	6561	broad.mit.edu	37	7	122809301	122809301	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr7:122809301C>T	ENST00000194130.2	-	4	493	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SLC13A1_ENST00000539873.1_Missense_Mutation_p.E88K	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	152						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTACAGCCTCCGCAATGGGC	0.532000													5	39					0	0	0.014758	0	0
VIM	7431	broad.mit.edu	37	10	17277378	17277378	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr10:17277378G>A	ENST00000544301.1	+	7	1632	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	VIM_ENST00000224237.5_Missense_Mutation_p.E407K	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	407	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.E407K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGAAGGCGAGGAGAGCAG	0.502000													14	52					0	0	0.146539	0	0
MCTP2	55784	broad.mit.edu	37	15	94945136	94945136	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr15:94945136C>G	ENST00000357742.4	+	16	1973	c.1973C>G	c.(1972-1974)tCa>tGa	p.S658*	MCTP2_ENST00000557742.1_Nonsense_Mutation_p.S246*|MCTP2_ENST00000451018.3_Nonsense_Mutation_p.S658*|MCTP2_ENST00000331706.4_Nonsense_Mutation_p.S246*	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	658					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGATCTTATCAAGAGATGTG	0.328000													12	31					0	0	0.119110	0	0
RAI1	10743	broad.mit.edu	37	17	17696462	17696462	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:17696462C>G	ENST00000353383.1	+	3	669	c.200C>G	c.(199-201)tCt>tGt	p.S67C	RAI1_ENST00000261641.6_Missense_Mutation_p.S67C	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	67						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGCACGCCCTCTGGCACTGCA	0.677000													11	23					0	0	0.093190	0	0
REG1A	5967	broad.mit.edu	37	2	79348029	79348029	+	Silent	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:79348029G>C	ENST00000233735.1	+	2	145	c.42G>C	c.(40-42)ctG>ctC	p.L14L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	14					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCTCCTGCCTGATGTTTCTGT	0.458000													18	41					0	0	0.062417	0	0
ATP4A	495	broad.mit.edu	37	19	36049897	36049897	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:36049897G>A	ENST00000262623.3	-	8	1281	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	418					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCCACACCTGACTGGTCTTC	0.592000													38	104					0	0	0.086207	0	0
ITK	3702	broad.mit.edu	37	5	156670654	156670654	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:156670654C>G	ENST00000422843.3	+	12	1234	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	361					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCGACCCCTCAGAGCTCACT	0.502000			T	SYK	peripheral T-cell lymphoma								23	43					0	0	0.069288	0	0
GBP6	163351	broad.mit.edu	37	1	89846074	89846074	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:89846074T>C	ENST00000370456.4	+	6	848	c.755T>C	c.(754-756)gTg>gCg	p.V252A	GBP6_ENST00000535065.1_Missense_Mutation_p.V122A	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	252							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTGAGAAGGTGTCAGAAAAG	0.443000													26	26					0	0	0.083992	0	0
LMCD1	29995	broad.mit.edu	37	3	8590590	8590590	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:8590590G>A	ENST00000157600.3	+	4	955		c.e4+1		LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Splice_Site|LMCD1_ENST00000454244.1_Splice_Site|LMCD1_ENST00000535732.1_Splice_Site	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 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)		AGTGGAATACGTAAGTTTCTC	0.572000													5	31					0	0	0.014758	0	0
SPHK2	56848	broad.mit.edu	37	19	49131577	49131577	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:49131577G>C	ENST00000340932.3	+	7	1248	c.774G>C	c.(772-774)tgG>tgC	p.W258C	SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000601712.1_3'UTR|SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000598088.1_Intron|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000443164.1_Intron|SPHK2_ENST00000599029.1_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	296	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCCCCTCCTGGGGTGATAGGG	0.612000													6	84					0	0	0.021553	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001429	52001429	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:52001429C>T	ENST00000291707.3	-	5	1303	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G	SIGLEC12_ENST00000598614.1_Silent_p.G298G	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	416	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGTCAGGCTCCCCCAGGTCC	0.622000													10	73					0	0	0.069234	0	0
FN3KRP	79672	broad.mit.edu	37	17	80674690	80674690	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:80674690C>T	ENST00000269373.6	+	1	132	c.59C>T	c.(58-60)tCg>tTg	p.S20L	FN3KRP_ENST00000535965.1_5'UTR	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	20							kinase activity	p.G23fs*31(1)		breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACGGGCCACTCGGGGGGCGGG	0.706000													9	21					0	0	0.058154	0	0
KIT	3815	broad.mit.edu	37	4	55595513	55595513	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:55595513T>C	ENST00000288135.5	+	14	2100	c.2003T>C	c.(2002-2004)gTc>gCc	p.V668A		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	668	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCACCCTGGTCATTACAGAA	0.378000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				27	41					0	0	0.144211	0	0
UFL1	23376	broad.mit.edu	37	6	96969768	96969768	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:96969768G>C	ENST00000369278.4	+	1	85	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	UFL1_ENST00000461673.1_3'UTR	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	7	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										CGCCTGGGAAGAGATTAGGCG	0.667000													6	9					0	0	0.021553	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188315	37188315	+	RNA	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:37188315C>T	ENST00000425901.2	+	0	2157					NR_033753.2																						GAGGAGACCTCAACTCAGTCT	0.493000													16	72					0	0	0.146539	0	0
SCLT1	132320	broad.mit.edu	37	4	129857825	129857825	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:129857825C>G	ENST00000281142.5	-	18	2317	c.1814G>C	c.(1813-1815)aGa>aCa	p.R605T	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	605						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						ATTATTGATTCTAATTTCTGC	0.338000													5	8					0	0	0.014758	0	0
MYH14	79784	broad.mit.edu	37	19	50795577	50795577	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:50795577C>G	ENST00000440075.2	+	37	5234	c.5187C>G	c.(5185-5187)atC>atG	p.I1729M	MYH14_ENST00000596571.1_Missense_Mutation_p.I1688M|MYH14_ENST00000262269.8_Missense_Mutation_p.I1729M|MYH14_ENST00000425460.1_Missense_Mutation_p.I1696M|MYH14_ENST00000376970.2_Missense_Mutation_p.I1721M|MYH14_ENST00000601313.1_Missense_Mutation_p.I1729M|MYH14_ENST00000598205.1_Missense_Mutation_p.I1696M			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1688					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGGAGGAGATCTTCTCCCAGA	0.637000													4	5					0	0	0.009096	0	0
PRMT7	54496	broad.mit.edu	37	16	68349885	68349885	+	Translation_Start_Site	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:68349885G>A	ENST00000339507.5	+	3	833	c.3G>A	c.(1-3)atG>atA	p.M1I	PRMT7_ENST00000348497.4_Start_Codon_SNP_p.M1I|PRMT7_ENST00000449359.3_Start_Codon_SNP_p.M1I|PRMT7_ENST00000564441.1_Intron|PRMT7_ENST00000441236.1_Start_Codon_SNP_p.M1I			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	1					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGGGCACCATGAAGATCTTCT	0.502000													12	17					0	0	0.093190	0	0
TH	7054	broad.mit.edu	37	11	2187766	2187766	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:2187766C>G	ENST00000381178.1	-	10	1102	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	TH_ENST00000381175.1_Missense_Mutation_p.E358Q|TH_ENST00000352909.3_Missense_Mutation_p.E331Q|TH_ENST00000333684.5_Missense_Mutation_p.E241Q	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	362					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCAGCAGCTCGTGGCAGCAG	0.756000													11	5					0	0	0.080935	0	0
MAPK3	5595	broad.mit.edu	37	16	30133279	30133279	+	Translation_Start_Site	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr16:30133279G>C	ENST00000484663.1	-	0	1010				MAPK3_ENST00000403394.1_Missense_Mutation_p.I73M|MAPK3_ENST00000322266.5_Missense_Mutation_p.I73M|MAPK3_ENST00000395202.1_Missense_Mutation_p.I73M|MAPK3_ENST00000263025.4_Missense_Mutation_p.I73M|MAPK3_ENST00000395200.1_Missense_Mutation_p.I44M|MAPK3_ENST00000395199.3_Missense_Mutation_p.I73M			P27361	MK03_HUMAN	mitogen-activated protein kinase 3						activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CGAAGGGGCTGATCTTCTTGA	0.607000													10	17					0	0	0.069234	0	0
SEC13	6396	broad.mit.edu	37	3	10342988	10342988	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:10342988G>A	ENST00000383801.2	-	10	1135	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	SEC13_ENST00000350697.3_Missense_Mutation_p.S309F|SEC13_ENST00000397109.3_Missense_Mutation_p.S295F|SEC13_ENST00000337354.4_Missense_Mutation_p.S312F|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000492602.1_Intron	NM_001136026.2	NP_001129498.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	309					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGCTGATACGGAGCCCTGGCC	0.602000													5	202					0	0	0.014758	0	0
CRMP1	1400	broad.mit.edu	37	4	5830231	5830231	+	Silent	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr4:5830231G>C	ENST00000324989.7	-	12	1876	c.1788C>G	c.(1786-1788)gtC>gtG	p.V596V	CRMP1_ENST00000512574.1_Silent_p.V480V|CRMP1_ENST00000397890.2_Silent_p.V482V|CRMP1_ENST00000511535.1_5'UTR|EVC_ENST00000382674.2_Intron	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	482					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TCCTGATTTTGACGCGCTGGT	0.587000													12	13					0	0	0.093190	0	0
C9orf171	389799	broad.mit.edu	37	9	135285703	135285703	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr9:135285703G>A	ENST00000343036.2	+	1	93	c.45G>A	c.(43-45)agG>agA	p.R15R	C9orf171_ENST00000393216.2_Silent_p.R15R|C9orf171_ENST00000393215.3_Silent_p.R15R	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	15										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CGCGATGGAGGAAGCAGCAGC	0.736000													6	0					0	0	0.021553	0	0
KCNV1	27012	broad.mit.edu	37	8	110980794	110980794	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr8:110980794A>C	ENST00000524391.1	-	4	2058	c.1026T>G	c.(1024-1026)tgT>tgG	p.C342W	KCNV1_ENST00000297404.1_Missense_Mutation_p.C342W			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	342						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTTCTTCGTAACACTGGGTGA	0.473000													20	59					0	0	0.049695	0	0
TRMT12	55039	broad.mit.edu	37	8	125463171	125463171	+	Translation_Start_Site	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr8:125463171G>C	ENST00000328599.3	+	1	124	c.3G>C	c.(1-3)atG>atC	p.M1I	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	1					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGAGGTGATGAGAGAGAATG	0.537000													28	77					0	0	0.134883	0	0
ABCG1	9619	broad.mit.edu	37	21	43704775	43704775	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr21:43704775C>T	ENST00000398437.1	+	8	1426	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	ABCG1_ENST00000347800.2_Silent_p.L277L|ABCG1_ENST00000398449.3_Silent_p.L280L|ABCG1_ENST00000398457.2_Silent_p.L282L|ABCG1_ENST00000340588.4_Silent_p.L388L|ABCG1_ENST00000361802.2_Silent_p.L280L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.L291L			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	280	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCGCCAAACTCTTCGAGCTGT	0.622000													14	75					0	0	0.119110	0	0
LAMC2	3918	broad.mit.edu	37	1	183197603	183197603	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:183197603C>A	ENST00000264144.4	+	11	1628	c.1563C>A	c.(1561-1563)aaC>aaA	p.N521K	LAMC2_ENST00000493293.1_Missense_Mutation_p.N521K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	521	Laminin EGF-like 7.			N -> S (in Ref. 1; CAA78728/CAA78729).	cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AATGCAACAACAATGTGGACC	0.567000											OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	31					7.26314e-15	7.70643e-15	0.125774	1	0
ATP6V0A1	535	broad.mit.edu	37	17	40647151	40647151	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:40647151C>T	ENST00000343619.4	+	13	1537	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L472F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L479F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L429F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L429F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.L118F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L472F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	472					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCCAAGTCTCTTAATATCTT	0.388000													115	82					0	0	0.139131	0	0
SHANK1	50944	broad.mit.edu	37	19	51205763	51205763	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:51205763C>T	ENST00000293441.1	-	11	1726	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	SHANK1_ENST00000391814.1_Missense_Mutation_p.E570K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E570K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	570	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATCTCCCCCTCGGCTTGGGCC	0.667000													11	26					0	0	0.119110	0	0
DNAH9	1770	broad.mit.edu	37	17	11713684	11713684	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:11713684C>T	ENST00000262442.4	+	45	8773	c.8705C>T	c.(8704-8706)tCt>tTt	p.S2902F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2902F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 4 (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)		CTTTTGGCATCTGGTAAGAGA	0.453000													8	51					0	0	0.038147	0	0
UBA52	7311	broad.mit.edu	37	19	18685771	18685771	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:18685771G>A	ENST00000442744.2	+	4	340	c.282G>A	c.(280-282)atG>atA	p.M94I	UBA52_ENST00000430157.2_Missense_Mutation_p.M94I|UBA52_ENST00000597451.1_Missense_Mutation_p.M94I|UBA52_ENST00000599551.1_Missense_Mutation_p.M94I|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000595158.1_Missense_Mutation_p.M94I|UBA52_ENST00000595683.1_Missense_Mutation_p.M94I|UBA52_ENST00000596304.1_Missense_Mutation_p.M94I|UBA52_ENST00000598780.1_Missense_Mutation_p.M94I|UBA52_ENST00000599595.1_Missense_Mutation_p.M94I|UBA52_ENST00000596273.1_Missense_Mutation_p.M94I	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	94					activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						GCGACAAGATGATCTGCCGCA	0.612000													9	21					0	0	0.058154	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													5	7					0	0	0.021553	0	0
INHBB	3625	broad.mit.edu	37	2	121106682	121106682	+	Silent	SNP	C	C	T	rs145813735		TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:121106682C>T	ENST00000295228.3	+	2	502	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	152					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CAGATGGCCTCGCCTCCTCCC	0.552000													20	35					0	0	0.043863	0	0
CIC	23152	broad.mit.edu	37	19	42797830	42797830	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:42797830C>G	ENST00000572681.2	+	17	6671	c.6603C>G	c.(6601-6603)agC>agG	p.S2201R	CIC_ENST00000575354.2_Missense_Mutation_p.S1294R|CIC_ENST00000160740.3_Missense_Mutation_p.S1292R			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCCTCCCAGCCCGGCCCCAG	0.697000			"""Mis, F, S"""		oligodendroglioma								3	20					0	0	0.115264	0	0
THUMPD3	25917	broad.mit.edu	37	3	9426235	9426235	+	Nonsense_Mutation	SNP	C	C	T	rs149283084	byFrequency	TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:9426235C>T	ENST00000345094.3	+	10	1721	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.R463*|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.R463*	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	463							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		ACACGTATGGCGAAAGGTGGA	0.418000													38	487					0	0	0.086207	0	0
PPP1R10	5514	broad.mit.edu	37	6	30573999	30573999	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:30573999G>C	ENST00000376511.2	-	9	1208	c.656C>G	c.(655-657)tCc>tGc	p.S219C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	219	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						AGGCACCAAGGATGGTGTCTC	0.522000													23	7					0	0	0.091800	0	0
RNF6	6049	broad.mit.edu	37	13	26788723	26788723	+	Silent	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr13:26788723G>A	ENST00000381588.4	-	5	2048	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	RNF6_ENST00000381570.3_Silent_p.V432V|RNF6_ENST00000399762.2_Silent_p.V76V|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Silent_p.V432V	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	432					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTTCAATAGTGACTGTATTTT	0.443000													10	132					0	0	0.058154	0	0
TRHDE	29953	broad.mit.edu	37	12	72667327	72667327	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:72667327G>A	ENST00000261180.4	+	1	865	c.769G>A	c.(769-771)Ggg>Agg	p.G257R	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	257					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGTGCTCCACGGGGAGAGAAG	0.647000													29	78					0	0	0.125774	0	0
NSA2	10412	broad.mit.edu	37	5	74066504	74066504	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr5:74066504G>C	ENST00000296802.5	+	4	760	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	131	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GGGAGAAACAGAAGTATTAAA	0.373000													3	65					0	0	0.009096	0	0
OR10H1	26539	broad.mit.edu	37	19	15917897	15917897	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:15917897C>T	ENST00000334920.2	-	1	1039	c.951G>A	c.(949-951)atG>atA	p.M317I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCTCCTACATCATTACATTTT	0.433000													24	40					0	0	0.069288	0	0
OR51B2	79345	broad.mit.edu	37	11	5344899	5344899	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr11:5344899A>G	ENST00000328813.2	-	1	683	c.629T>C	c.(628-630)cTg>cCg	p.L210P	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGATGATCAGACAGTCTAG	0.398000													20	34					0	0	0.062417	0	0
NLGN1	22871	broad.mit.edu	37	3	173322582	173322582	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr3:173322582T>G	ENST00000457714.1	+	3	623	c.194T>G	c.(193-195)aTt>aGt	p.I65S	NLGN1_ENST00000401917.3_Missense_Mutation_p.I65S|NLGN1_ENST00000361589.4_Missense_Mutation_p.I65S|NLGN1_ENST00000545397.1_Missense_Mutation_p.I65S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	65					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATAAGAGGGATTAAGAAGGAA	0.453000													9	102					0	0	0.058154	0	0
DEFB121	245934	broad.mit.edu	37	20	29993943	29993943	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:29993943G>T	ENST00000376314.2	-	1	126	c.13C>A	c.(13-15)Ctt>Att	p.L5I	DEFB121_ENST00000376312.3_Intron	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	5					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAAAGCAGAAGAAGGAGCTTC	0.498000													11	33					0.00010058	0.000102392	0.093190	1	0
FHOD3	80206	broad.mit.edu	37	18	34174752	34174752	+	Silent	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr18:34174752C>T	ENST00000257209.4	+	7	731	c.609C>T	c.(607-609)ttC>ttT	p.F203F	FHOD3_ENST00000590592.1_Silent_p.F203F|FHOD3_ENST00000359247.4_Silent_p.F203F|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000445677.1_Silent_p.F203F	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	203	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCTGCCAGTTCCGCCTGGTGG	0.542000													3	9					0	0	0.115264	0	0
TEX29	121793	broad.mit.edu	37	13	111973253	111973253	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr13:111973253G>A	ENST00000283547.1	+	2	145	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	6						integral to membrane											ATACGTGCTGGAAGTGAAGAA	0.642000													71	100					0	0	0.139131	0	0
KIAA1244	57221	broad.mit.edu	37	6	138656176	138656176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:138656176C>T	ENST00000251691.4	+	33	6359	c.6193C>T	c.(6193-6195)Cag>Tag	p.Q2065*		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2065					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCCGCTGCTTCAGCGTCCCCA	0.627000													8	1					0	0	0.047766	0	0
KIF3B	9371	broad.mit.edu	37	20	30897972	30897972	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr20:30897972C>G	ENST00000375712.3	+	2	559	c.392C>G	c.(391-393)tCt>tGt	p.S131C		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	131	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCCACATCTCTCGATCCCAG	0.458000													9	66					0	0	0.047766	0	0
C1QA	712	broad.mit.edu	37	1	22965372	22965372	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr1:22965372delG	ENST00000374642.3	+	3	414	c.210delG	c.(208-210)cagfs	p.Q70fs	C1QA_ENST00000402322.1_Frame_Shift_Del_p.Q70fs	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	70	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAGGAGACCAGGGGGAACCTG	0.637													2	4	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43451901	43451901	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr2:43451901delC	ENST00000282388.3	-	2	1335	c.1042delG	c.(1042-1044)gccfs	p.A348fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	348					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)				GCGCACGGGGCCCCCGGCGCC	0.771													2	4	---	---	---	---					
PI16	221476	broad.mit.edu	37	6	36930816	36930818	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr6:36930816_36930818delCTT	ENST00000373674.3	+	5	1026_1028	c.698_700delCTT	c.(697-702)ccttct>cct	p.S235del	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	235						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGGTACTCCTTCTTCCCTAGC	0.562													33	27	---	---	---	---					
SNORA26	677810	broad.mit.edu	37	9	89875498	89875498	+	RNA	DEL	G	G	-			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr9:89875498delG	ENST00000391119.1	+	0	134																											TGGAGCCACAGCaaaaaaaaa	0.363													2	4	---	---	---	---					
RP11-273B20.3	0	broad.mit.edu	37	12	7338794	7338794	+	RNA	DEL	G	G	-	rs34548221		TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:7338794delG	ENST00000545794.1	-	0	279				RP11-273B20.3_ENST00000543061.1_RNA																							cctgttgagaggggggactga	0.502													5	1	---	---	---	---					
NAA25	80018	broad.mit.edu	37	12	112481464	112481494	+	Frame_Shift_Del	DEL	CCAGGGTTGCCTCCAGCTGTTGAAGGAGCAA	CCAGGGTTGCCTCCAGCTGTTGAAGGAGCAA	-			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr12:112481464_112481494delCCAGGGTTGCCTCCAGCTGTTGAAGGAGCAA	ENST00000261745.4	-	18	2433_2463	c.2185_2215delTTGCTCCTTCAACAGCTGGAGGCAACCCTGG	c.(2185-2217)ttgctccttcaacagctggaggcaaccctggagfs	p.LLLQQLEATLE729fs		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	729						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						TTTCCTGTCTCCAGGGTTGCCTCCAGCTGTTGAAGGAGCAAACGAAGAATA	0.424													14	53	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256682	69256683	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr14:69256682_69256683insC	ENST00000439696.2	-	2	885_886	c.584_585insG	c.(583-585)cgtfs	p.R195fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.R195fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	195					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGAGGCGGGGACGGTCAGCGGA	0.688											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	25	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													2	4	---	---	---	---					
CDC42EP5	148170	broad.mit.edu	37	19	54976317	54976317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chr19:54976317delC	ENST00000301200.2	-	3	756	c.415delG	c.(415-417)gacfs	p.D139fs		NM_145057.2	NP_659494.2	Q6NZY7	BORG3_HUMAN	CDC42 effector protein (Rho GTPase binding) 5	139					positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|membrane	GTP-Rho binding			lung(1)|skin(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.138)		AGCTCGAGGTCCGCGTTGGGG	0.721													2	4	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44929115	44929116	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KQ-A41P-01A-12D-A339-08	TCGA-KQ-A41P-10F-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9b23dc1-a35a-46f2-9580-39eeb550cc72	cd6ea532-81b7-46d4-b4cb-5517018e60fb	g.chrX:44929115_44929116insC	ENST00000377967.4	+	17	2256_2257	c.2215_2216insC	c.(2215-2217)aacfs	p.N739fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.N746fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.N660fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.N694fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	739					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGAGACACCTAACAGCACTGCC	0.490			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								27	4	---	---	---	---